pyridoxine has been researched along with Aura in 197 studies
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
| Excerpt | Relevance | Reference |
|---|---|---|
| " We present the rare case of a 9-day-old with seizures refractory to multiple anticonvulsant medications who was diagnosed with pyridoxine-dependent epilepsy." | 9.22 | Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures. ( Case, SD; Tsao, HS, 2022) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants." | 9.19 | Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( Jiang, Y; Qin, J; Wang, J; Wu, Y; Xiong, H; Yang, X; Yang, Z; Zhang, Y, 2014) |
| "The study testifies an assumption on epilepsy as an inborn error of pyridoxine metabolism and suggests non-invasive quantitative biomarkers for clarified evaluation of clinical status and monitoring an individual treatment by antiepileptic drugs." | 9.16 | Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment. ( Dolina, S; Malitsky, S; Margalit, D; Pressman, E; Rabinkov, A, 2012) |
| "Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation." | 9.12 | Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. ( Abdenur, JE; Ashmore, C; Boemer, F; Bok, LA; Boyer, M; Buhas, D; Clayton, PT; Coughlin, CR; Das, A; Dekker, H; Evangeliou, A; Feillet, F; Footitt, EJ; Gospe, SM; Hartmann, H; Kara, M; Kristensen, E; Lee, J; Lilje, R; Longo, N; Lunsing, RJ; Mills, P; Papadopoulou, MT; Pearl, PL; Piazzon, F; Plecko, B; Saini, AG; Santra, S; Sjarif, DR; Stockler-Ipsiroglu, S; Striano, P; Tseng, LA; Van Hove, JLK; van Karnebeek, CDM; Verhoeven-Duif, NM; Wijburg, FA; Zuberi, SM, 2021) |
| "To determine the efficacy of pyridoxine in treating seizures, 90 infants and children with recurrent convulsions primarily due to acute infectious diseases were enrolled in the present study." | 9.08 | Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children. ( Bai, AN; Cao, YM; Chui, W; Gao, DY; Ge, ZL; Jiao, FY; Li, HR; Lieu, NS; Liu, SB; Liu, ZY; Takuma, Y; Wu, S; Zhang, XK, 1997) |
| "Randomised controlled add-on trials of sulthiame in people of any age with epilepsy of any aetiology." | 8.91 | Sulthiame add-on therapy for epilepsy. ( Marson, AG; Milburn-McNulty, P; Powell, G; Sills, GJ, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures." | 8.31 | The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. ( Arntsen, V; Berland, S; Bindoff, LA; Brodtkorb, E; Gerstner, T; Hassel, B; Jamali, A; Kristensen, E; Kupliauskiene, G; Myren-Svelstad, S; Sejersted, Y; Sikiric, A; Tangeraas, T, 2023) |
| "Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE)." | 8.31 | Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. ( Anwar, T; Christoffel, K; Donoho, K; Fortin, O; Kousa, Y; Leon, E; Miller, I; Mulkey, SB, 2023) |
| "To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy." | 8.12 | Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study. ( Aledo-Serrano, A; Bayat, A; Boßelmann, C; de Sain-van der Velden, MGM; Gardella, E; Gil-Nagel, A; Korff, CM; Lund, AM; Møller, RS; Thomas, A; Weber, Y, 2022) |
| "Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment." | 8.12 | Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. ( Abdenur, JE; Andrews, A; Aziz, VG; Bok, LA; Boyer, M; Buhas, D; Coughlin, CR; Footitt, EJ; Gospe, SM; Grønborg, S; Hartmann, H; Janssen, MCH; Longo, N; Lunsing, RJ; MacKenzie, AE; Tseng, LA; van Karnebeek, CDM; Wijburg, FA, 2022) |
| "Levetiracetam (LEV) is an anti-seizure medication (ASM) known to have significant behavioral side effects in children with epilepsy." | 8.12 | Vitamin B6 decreases the risk of levetiracetam discontinuation in children with epilepsy: A retrospective study. ( Bartolini, L; Bassell-Hawkins, J; Lob, K; Nie, D; Patil, R, 2022) |
| " Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period." | 8.12 | Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene. ( Çavdartepe, BE; İpek, R; Kor, D; Okuyaz, Ç, 2022) |
| "Pyridoxine-dependent epilepsy (PDE) is a recessive genetic disease characterized by epileptic encephalopathy with therapeutic response to pharmacological doses of pyridoxine and resistance to anti-epileptic treatments." | 8.02 | Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation). ( Benoist, JF; Mention, K; Minet, P; Miret, A; Remerand, G; Sarret, C, 2021) |
| "Pyridoxine-dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs)." | 7.96 | Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus. ( Foulds, N; Hunt, D; Jade Edwards, C; Osman, C; Prevett, M, 2020) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway." | 7.96 | A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. ( Al-Shekaili, HH; Bosma, M; Ciapaite, J; Friedman, JM; Horvath, G; Kema, IP; Leavitt, BR; Lengyell, TC; Pena, I; Petkau, TL; Ross, C; Simpson, EM; van Faassen, M; van Karnebeek, C; Verhoeven-Duif, NM, 2020) |
| "In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures." | 7.88 | Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? ( Benoist, JF; Bok, LA; de Rooy, RLP; Halbertsma, FJ; Lunsing, RJ; Mills, PB; Plecko, B; Schippers, HM; Struijs, EA; Valence, S; van Hasselt, PM; van Spronsen, FJ; Whalen, S; Wohlrab, G, 2018) |
| "To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE)." | 7.88 | Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. ( Bok, LA; Budech, CB; Friedman, SD; Gospe, SM; Maga, AM; Oesch, G; Poliachik, SL; Wright, JN, 2018) |
| " This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-dependent epilepsy." | 7.88 | High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment. ( Anderson, J; Arboleda, N; Calleo, V, 2018) |
| "Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively." | 7.85 | Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. ( Bullivant, G; Cao, F; Dowling, JJ; Fernandez Ojeda, M; Jia, ZP; Mercimek-Andrews, S; Salomons, GS; Wen, XY; Zabinyakov, N, 2017) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 7.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses." | 7.83 | Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( Abily-Donval, L; Barakizou, H; Bayoudh, F; Bekri, S; Brasseur-Daudruy, M; Jebnoun, S; Laquerriere, A; Marguet, F; Marret, S; Tebani, A; Torre, S, 2016) |
| "To analyze the clinical and genetic characteristics of patients with pyridoxine dependent epilepsy (PDE), and build a method to detect and analyze the concentration of urinary pipecolic acid in PDE patients receiving pyridoxine treatment." | 7.83 | [Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy]. ( Jiang, YW; Li, H; Liu, XY; Qian, P; Wu, Y; Xue, J; Yang, ZX, 2016) |
| "Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene." | 7.81 | Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. ( Donner, EJ; Feigenbaum, A; Mamak, E; Mercimek-Mahmutoglu, S; Nasr, E, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset and recurrent seizures that can be controlled by a high dose of pyridoxine." | 7.81 | Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( Iai, M; Osaka, H; Shimbo, H; Tamaura, M; Yamashita, S, 2015) |
| "Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures." | 7.81 | Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy. ( Cirillo, M; Millichap, JJ; Nordli, DR; Stack, CV; Venkatesan, C, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants." | 7.81 | First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( Bojidarova, M; Georgieva, B; Georgieva, R; Kadiyska, T; Litvinenko, I; Mitev, V; Stamatov, D; Tacheva, G; Tincheva, S; Todorov, T; Todorova, A; Yordanova, I, 2015) |
| "We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy." | 7.81 | Long-term outcome in pyridoxine-responsive infantile epilepsy. ( Gaily, E; Mankinen, K; Riikonen, R, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene." | 7.81 | A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( Li, H; Liu, X; Qian, P; Wu, Y; Xue, J; Yang, Z, 2015) |
| "Pyridoxine dependent epilepsy (PDE) due to mutations in the ALDH7A1 gene (PDE-ALDH7A1) is caused by α-aminoadipic-semialdehyde-dehydrogenase enzyme deficiency in the lysine pathway resulting in the accumulation of α-aminoadipic acid semialdehyde (α-AASA)." | 7.80 | Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. ( Cordeiro, D; Cruz, V; Hyland, K; Kyriakopoulou, L; Mamak, E; Mercimek-Mahmutoglu, S; Struys, EA, 2014) |
| "Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease." | 7.79 | Congenital cataract in a child with pyridoxine-dependent epilepsy. ( Hildebrand, GD; Sandford, V; Yusuf, IH, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease." | 7.79 | Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( de Bellescize, J; des Portes, V; Ginguene, C; Marignier, S; Ville, D, 2013) |
| "We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three." | 7.79 | Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. ( Alfaite, C; Diogo, L; Fineza, I; Garcia, P; Gonçalves, O; Jakobs, C; Oliveira, R; Pereira, C; Robalo, C; Rodrigues, F; Salomons, G; Struys, E, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures and therapeutic response to pharmacological dose of pyridoxine." | 7.79 | Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( Chaabane, R; Fakhfakh, F; Gargouri, A; Hamida Hentati, N; Tlili, A, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants." | 7.78 | Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. ( Brigati, G; Capovilla, G; Falsaperla, R; Striano, P; Yeghiazaryan, NS; Zara, F, 2012) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 7.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied." | 7.78 | Long-term outcome in pyridoxine-dependent epilepsy. ( Bok, LA; Halbertsma, FJ; Houterman, S; Jakobs, C; Sival, DA; Struys, E; Van Der Hoeven, JH; Vreeswijk, C; Wevers, RA; Willemsen, MA, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 7.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 7.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 7.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy (PDE) is a treatable inborn error of metabolism with autosomal recessive inheritance." | 7.77 | Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? ( Fingerhut, M; Hartmann, H; Jakobs, C; Plecko, B, 2011) |
| "We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO)." | 7.76 | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( Baumgartner, M; Clayton, PT; Jakobs, C; Keller, E; Mills, PB; Schmitt, B; Wohlrab, G, 2010) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 7.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α-aminoadipic semialdehyde and piperideine-6-carboxylic acid." | 7.76 | The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. ( Brocker, C; Creadon-Swindell, G; Gallagher, RC; Scharer, G; Spector, E; Van Hove, JL; Vasiliou, V, 2010) |
| "Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine." | 7.76 | The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. ( Bok, LA; Brouwer, OF; de Coo, IF; Hagebeuk, EE; Jakobs, C; Maurits, NM; Poll-The, BT; Sival, DA; Teune, LK; Toet, MC; van der Hoeven, JH; Willemsen, MA, 2010) |
| "Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants." | 7.74 | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. ( Baumeister, F; Bosch, F; di Capua, M; Erwa, W; Freilinger, M; Hartmann, H; Hikel, C; Jakobs, C; Korenke, C; Luecke, T; Paschke, E; Paul, K; Plecko, B; Reutershahn, E; Stoeckler-Ipsiroglu, S; Struys, E, 2007) |
| "Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine." | 7.74 | Pyridoxine-dependent epilepsy initially responsive to phenobarbital. ( Lin, J; Lin, K; Masruha, MR; Vilanova, LC, 2007) |
| "To study the difference between pyridoxine (PN) and its active form, pyridoxal phosphate, (PLP) in control of idiopathic intractable epilepsy in children." | 7.73 | Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. ( Chang, MY; Chou, ML; Hsieh, MY; Hung, PC; Kuo, MF; Lin, KL; Wang, HS, 2005) |
| "Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder." | 7.73 | Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. ( Baumeister, F; Baumgartner, M; Erwa, W; Hikel, C; Jakobs, C; Korenke, GC; Plecko, B; Schmitt, B; Stöckler-Ipsiroglu, S; Struys, E, 2005) |
| "Pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine." | 7.73 | Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. ( Kelly, PJ; Krishnamoorthy, KS; Takeoka, M; Yoshii, A, 2005) |
| "Determine the prevalence of pyridoxine dependent seizures in children less than 16 years of age attending a teaching hospital in south India with early onset (before 3 years) intractable epilepsy of unknown aetiology, using the criteria proposed by Baxter." | 7.73 | Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study. ( Parameswaran, M; Ramachandrannair, R, 2005) |
| "Pyridoxine-dependent epilepsy is a disease inherited as an autosomal recessive trait, characterized by rapid response to pharmacological dosages of pyridoxine." | 7.70 | Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. ( Hoshino, H; Kure, S; Matsubara, Y; Miyabayashi, S; Narisawa, K; Sakata, Y; Shinka, T; Takahashi, K, 1998) |
| "To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis." | 7.70 | Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. ( Dulac, O; Nabbout, R; Plouin, P; Soufflet, C, 1999) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 7.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride." | 7.70 | A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. ( Burglen, L; Cormier-Daire, V; Dagoneau, N; Desguerre, I; Dulac, O; Munnich, A; Nabbout, R; Penet, C; Soufflet, C, 2000) |
| "An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures." | 7.69 | Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. ( Brown, WF; McLachlan, RS, 1995) |
| "Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder." | 7.69 | Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. ( Baumeister, FA; Egger, J; Gsell, W; Shin, YS, 1994) |
| "The EEG features and clinical correlates were investigated before, directly after, and on long-term follow-up after initiation of pyridoxine therapy in 6 patients with B6-dependent epilepsy." | 7.68 | Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. ( Krishnamoorthy, KS; Lombroso, CT; Mikati, MA; Trevathan, E, 1991) |
| "We report 4 infants with pyridoxine dependent seizures who had clinical features that led to diagnostic uncertainty." | 7.66 | Pyridoxine dependent seizures--a wider clinical spectrum. ( Bankier, A; Hopkins, IJ; Turner, M, 1983) |
| "This study was a randomized double-blind placebo-controlled clinical trial on 53 adult patients with epilepsy with behavioral side effects after treatment by levetiracetam." | 5.51 | Pyridoxine for treatment of levetiracetam-induced behavioral adverse events: A randomized double-blind placebo-controlled trial. ( Alizadeh-Navaei, R; Asghari, F; Cheraghmakani, H; Ghazaeian, M; Rezapour, M; Tabrizi, N, 2022) |
| "Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism." | 5.48 | Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( Chanson, JB; Echaniz-Laguna, A; Mourot-Cottet, R; Noel, E, 2018) |
| "Pyridoxal phosphate was extremely high in CSF and plasma." | 5.40 | Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( Abeling, NGGM; Bosch, AM; Cobben, JM; de Roo, MGA; Duran, M; Koelman, JHTM; Majoie, CB; Poll-The, BT, 2014) |
| " In both groups, they measure tryptophan metabolites before and after L-tryptophan overload, the dosage being 100/mg/kg of body weight." | 5.27 | [Tryptophan metabolism in children with epilepsy]. ( Bayés García, R; del Castillo, ML; Maldonado Lozano, J; Molina Font, JA; Narbona López, E; Núñez del Carril, J; Robles Vizcaíno, C, 1984) |
| " We present the rare case of a 9-day-old with seizures refractory to multiple anticonvulsant medications who was diagnosed with pyridoxine-dependent epilepsy." | 5.22 | Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures. ( Case, SD; Tsao, HS, 2022) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants." | 5.19 | Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( Jiang, Y; Qin, J; Wang, J; Wu, Y; Xiong, H; Yang, X; Yang, Z; Zhang, Y, 2014) |
| "The study testifies an assumption on epilepsy as an inborn error of pyridoxine metabolism and suggests non-invasive quantitative biomarkers for clarified evaluation of clinical status and monitoring an individual treatment by antiepileptic drugs." | 5.16 | Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment. ( Dolina, S; Malitsky, S; Margalit, D; Pressman, E; Rabinkov, A, 2012) |
| "Behavioral side effects related to the use of levetiracetam (LEV) in epilepsy are increasingly being recognized." | 5.13 | Pyridoxine supplementation for the treatment of levetiracetam-induced behavior side effects in children: preliminary results. ( Greenberg, E; Khan, A; Major, P; Thiele, EA, 2008) |
| "Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation." | 5.12 | Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. ( Abdenur, JE; Ashmore, C; Boemer, F; Bok, LA; Boyer, M; Buhas, D; Clayton, PT; Coughlin, CR; Das, A; Dekker, H; Evangeliou, A; Feillet, F; Footitt, EJ; Gospe, SM; Hartmann, H; Kara, M; Kristensen, E; Lee, J; Lilje, R; Longo, N; Lunsing, RJ; Mills, P; Papadopoulou, MT; Pearl, PL; Piazzon, F; Plecko, B; Saini, AG; Santra, S; Sjarif, DR; Stockler-Ipsiroglu, S; Striano, P; Tseng, LA; Van Hove, JLK; van Karnebeek, CDM; Verhoeven-Duif, NM; Wijburg, FA; Zuberi, SM, 2021) |
| "To determine the efficacy of pyridoxine in treating seizures, 90 infants and children with recurrent convulsions primarily due to acute infectious diseases were enrolled in the present study." | 5.08 | Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children. ( Bai, AN; Cao, YM; Chui, W; Gao, DY; Ge, ZL; Jiao, FY; Li, HR; Lieu, NS; Liu, SB; Liu, ZY; Takuma, Y; Wu, S; Zhang, XK, 1997) |
| "Among people with epilepsy, levetiracetam (LEV) can cause neuropsychiatric adverse events (NPAEs) that impact negatively on quality of life." | 5.05 | Pyridoxine supplementation for levetiracetam-related neuropsychiatric adverse events: A systematic review. ( Perucca, E; Romoli, M; Sen, A, 2020) |
| " Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
| "Randomised controlled add-on trials of sulthiame in people of any age with epilepsy of any aetiology." | 4.91 | Sulthiame add-on therapy for epilepsy. ( Marson, AG; Milburn-McNulty, P; Powell, G; Sills, GJ, 2015) |
| "Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy." | 4.89 | Inborn errors of metabolism causing epilepsy. ( Clayton, PT; Footitt, EJ; Rahman, S; Varadkar, S, 2013) |
| " The prototype is pyridoxine dependency, although pyridoxal 5'-phosphate dependency is a recently recognized but treatable neonatal epilepsy that deserves earmarked distinction." | 4.85 | New treatment paradigms in neonatal metabolic epilepsies. ( Pearl, PL, 2009) |
| "The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis." | 4.82 | Clinical aspects of the disorders of GABA metabolism in children. ( Gibson, KM; Pearl, PL, 2004) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures." | 4.31 | The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. ( Arntsen, V; Berland, S; Bindoff, LA; Brodtkorb, E; Gerstner, T; Hassel, B; Jamali, A; Kristensen, E; Kupliauskiene, G; Myren-Svelstad, S; Sejersted, Y; Sikiric, A; Tangeraas, T, 2023) |
| "Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE)." | 4.31 | Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. ( Anwar, T; Christoffel, K; Donoho, K; Fortin, O; Kousa, Y; Leon, E; Miller, I; Mulkey, SB, 2023) |
| "To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy." | 4.12 | Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study. ( Aledo-Serrano, A; Bayat, A; Boßelmann, C; de Sain-van der Velden, MGM; Gardella, E; Gil-Nagel, A; Korff, CM; Lund, AM; Møller, RS; Thomas, A; Weber, Y, 2022) |
| "Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment." | 4.12 | Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. ( Abdenur, JE; Andrews, A; Aziz, VG; Bok, LA; Boyer, M; Buhas, D; Coughlin, CR; Footitt, EJ; Gospe, SM; Grønborg, S; Hartmann, H; Janssen, MCH; Longo, N; Lunsing, RJ; MacKenzie, AE; Tseng, LA; van Karnebeek, CDM; Wijburg, FA, 2022) |
| "Levetiracetam (LEV) is an anti-seizure medication (ASM) known to have significant behavioral side effects in children with epilepsy." | 4.12 | Vitamin B6 decreases the risk of levetiracetam discontinuation in children with epilepsy: A retrospective study. ( Bartolini, L; Bassell-Hawkins, J; Lob, K; Nie, D; Patil, R, 2022) |
| " Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period." | 4.12 | Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene. ( Çavdartepe, BE; İpek, R; Kor, D; Okuyaz, Ç, 2022) |
| "Pyridoxine-dependent epilepsy (PDE) is a recessive genetic disease characterized by epileptic encephalopathy with therapeutic response to pharmacological doses of pyridoxine and resistance to anti-epileptic treatments." | 4.02 | Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation). ( Benoist, JF; Mention, K; Minet, P; Miret, A; Remerand, G; Sarret, C, 2021) |
| "Pyridoxine-dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs)." | 3.96 | Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus. ( Foulds, N; Hunt, D; Jade Edwards, C; Osman, C; Prevett, M, 2020) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway." | 3.96 | A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. ( Al-Shekaili, HH; Bosma, M; Ciapaite, J; Friedman, JM; Horvath, G; Kema, IP; Leavitt, BR; Lengyell, TC; Pena, I; Petkau, TL; Ross, C; Simpson, EM; van Faassen, M; van Karnebeek, C; Verhoeven-Duif, NM, 2020) |
| "In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures." | 3.88 | Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? ( Benoist, JF; Bok, LA; de Rooy, RLP; Halbertsma, FJ; Lunsing, RJ; Mills, PB; Plecko, B; Schippers, HM; Struijs, EA; Valence, S; van Hasselt, PM; van Spronsen, FJ; Whalen, S; Wohlrab, G, 2018) |
| "To evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE)." | 3.88 | Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. ( Bok, LA; Budech, CB; Friedman, SD; Gospe, SM; Maga, AM; Oesch, G; Poliachik, SL; Wright, JN, 2018) |
| " This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-dependent epilepsy." | 3.88 | High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment. ( Anderson, J; Arboleda, N; Calleo, V, 2018) |
| "Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively." | 3.85 | Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. ( Bullivant, G; Cao, F; Dowling, JJ; Fernandez Ojeda, M; Jia, ZP; Mercimek-Andrews, S; Salomons, GS; Wen, XY; Zabinyakov, N, 2017) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 3.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses." | 3.83 | Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( Abily-Donval, L; Barakizou, H; Bayoudh, F; Bekri, S; Brasseur-Daudruy, M; Jebnoun, S; Laquerriere, A; Marguet, F; Marret, S; Tebani, A; Torre, S, 2016) |
| "To analyze the clinical and genetic characteristics of patients with pyridoxine dependent epilepsy (PDE), and build a method to detect and analyze the concentration of urinary pipecolic acid in PDE patients receiving pyridoxine treatment." | 3.83 | [Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy]. ( Jiang, YW; Li, H; Liu, XY; Qian, P; Wu, Y; Xue, J; Yang, ZX, 2016) |
| "Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene." | 3.81 | Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome. ( Donner, EJ; Feigenbaum, A; Mamak, E; Mercimek-Mahmutoglu, S; Nasr, E, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset and recurrent seizures that can be controlled by a high dose of pyridoxine." | 3.81 | Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( Iai, M; Osaka, H; Shimbo, H; Tamaura, M; Yamashita, S, 2015) |
| "Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures." | 3.81 | Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy. ( Cirillo, M; Millichap, JJ; Nordli, DR; Stack, CV; Venkatesan, C, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants." | 3.81 | First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( Bojidarova, M; Georgieva, B; Georgieva, R; Kadiyska, T; Litvinenko, I; Mitev, V; Stamatov, D; Tacheva, G; Tincheva, S; Todorov, T; Todorova, A; Yordanova, I, 2015) |
| "We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy." | 3.81 | Long-term outcome in pyridoxine-responsive infantile epilepsy. ( Gaily, E; Mankinen, K; Riikonen, R, 2015) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene." | 3.81 | A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( Li, H; Liu, X; Qian, P; Wu, Y; Xue, J; Yang, Z, 2015) |
| "To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations." | 3.80 | Pyridoxine responsiveness in novel mutations of the PNPO gene. ( Abela, L; Clayton, P; Connolly, M; Hasselmann, O; Hofer, D; Kanz, S; Maier, O; Mills, P; Paschke, E; Paul, K; Plecko, B; Schmiedel, G; Stockler, S; Struys, E; Wolf, N, 2014) |
| "Pyridoxine dependent epilepsy (PDE) due to mutations in the ALDH7A1 gene (PDE-ALDH7A1) is caused by α-aminoadipic-semialdehyde-dehydrogenase enzyme deficiency in the lysine pathway resulting in the accumulation of α-aminoadipic acid semialdehyde (α-AASA)." | 3.80 | Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. ( Cordeiro, D; Cruz, V; Hyland, K; Kyriakopoulou, L; Mamak, E; Mercimek-Mahmutoglu, S; Struys, EA, 2014) |
| "Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease." | 3.79 | Congenital cataract in a child with pyridoxine-dependent epilepsy. ( Hildebrand, GD; Sandford, V; Yusuf, IH, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease." | 3.79 | Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( de Bellescize, J; des Portes, V; Ginguene, C; Marignier, S; Ville, D, 2013) |
| "We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three." | 3.79 | Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. ( Alfaite, C; Diogo, L; Fineza, I; Garcia, P; Gonçalves, O; Jakobs, C; Oliveira, R; Pereira, C; Robalo, C; Rodrigues, F; Salomons, G; Struys, E, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures and therapeutic response to pharmacological dose of pyridoxine." | 3.79 | Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( Chaabane, R; Fakhfakh, F; Gargouri, A; Hamida Hentati, N; Tlili, A, 2013) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants." | 3.78 | Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. ( Brigati, G; Capovilla, G; Falsaperla, R; Striano, P; Yeghiazaryan, NS; Zara, F, 2012) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 3.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied." | 3.78 | Long-term outcome in pyridoxine-dependent epilepsy. ( Bok, LA; Halbertsma, FJ; Houterman, S; Jakobs, C; Sival, DA; Struys, E; Van Der Hoeven, JH; Vreeswijk, C; Wevers, RA; Willemsen, MA, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 3.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 3.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 3.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy (PDE) is a treatable inborn error of metabolism with autosomal recessive inheritance." | 3.77 | Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? ( Fingerhut, M; Hartmann, H; Jakobs, C; Plecko, B, 2011) |
| "We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO)." | 3.76 | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( Baumgartner, M; Clayton, PT; Jakobs, C; Keller, E; Mills, PB; Schmitt, B; Wohlrab, G, 2010) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 3.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α-aminoadipic semialdehyde and piperideine-6-carboxylic acid." | 3.76 | The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. ( Brocker, C; Creadon-Swindell, G; Gallagher, RC; Scharer, G; Spector, E; Van Hove, JL; Vasiliou, V, 2010) |
| "Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine." | 3.76 | The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. ( Bok, LA; Brouwer, OF; de Coo, IF; Hagebeuk, EE; Jakobs, C; Maurits, NM; Poll-The, BT; Sival, DA; Teune, LK; Toet, MC; van der Hoeven, JH; Willemsen, MA, 2010) |
| " Hyperhomocysteinemia was defined as fasting total Hcy above 12 micromol/L and/or post-methionine load concentrations above 38 micromol/L." | 3.74 | Drug-induced pertubation of the aminothiol redox-status in patients with epilepsy: improvement by B-vitamins. ( Apeland, T; Frøyland, ES; Kristensen, O; Mansoor, MA; Strandjord, RE, 2008) |
| "Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants." | 3.74 | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. ( Baumeister, F; Bosch, F; di Capua, M; Erwa, W; Freilinger, M; Hartmann, H; Hikel, C; Jakobs, C; Korenke, C; Luecke, T; Paschke, E; Paul, K; Plecko, B; Reutershahn, E; Stoeckler-Ipsiroglu, S; Struys, E, 2007) |
| "Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine." | 3.74 | Pyridoxine-dependent epilepsy initially responsive to phenobarbital. ( Lin, J; Lin, K; Masruha, MR; Vilanova, LC, 2007) |
| "To study the difference between pyridoxine (PN) and its active form, pyridoxal phosphate, (PLP) in control of idiopathic intractable epilepsy in children." | 3.73 | Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. ( Chang, MY; Chou, ML; Hsieh, MY; Hung, PC; Kuo, MF; Lin, KL; Wang, HS, 2005) |
| "Pyridoxine-dependent epilepsy, although described some decades ago, may still be an underdiagnosed disorder." | 3.73 | Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. ( Baumeister, F; Baumgartner, M; Erwa, W; Hikel, C; Jakobs, C; Korenke, GC; Plecko, B; Schmitt, B; Stöckler-Ipsiroglu, S; Struys, E, 2005) |
| "Elevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine-dependent epilepsy, but its molecular background is unclear." | 3.73 | Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. ( Hoeger, H; Jakobs, C; Leschnik, M; Muehl, A; Plecko, B; Stoeckler-Ipsiroglu, S; Stromberger, C; Struys, E, 2005) |
| "Pyridoxine dependent epilepsy is a rare cause of seizures in childhood." | 3.73 | Epidemiology of pyridoxine dependent seizures in the Netherlands. ( Andriessen, P; Been, JV; Bok, LA; Renier, WO, 2005) |
| "Pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine." | 3.73 | Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. ( Kelly, PJ; Krishnamoorthy, KS; Takeoka, M; Yoshii, A, 2005) |
| "Determine the prevalence of pyridoxine dependent seizures in children less than 16 years of age attending a teaching hospital in south India with early onset (before 3 years) intractable epilepsy of unknown aetiology, using the criteria proposed by Baxter." | 3.73 | Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study. ( Parameswaran, M; Ramachandrannair, R, 2005) |
| "Pyridoxine-dependent epilepsy is a disease inherited as an autosomal recessive trait, characterized by rapid response to pharmacological dosages of pyridoxine." | 3.70 | Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. ( Hoshino, H; Kure, S; Matsubara, Y; Miyabayashi, S; Narisawa, K; Sakata, Y; Shinka, T; Takahashi, K, 1998) |
| "To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis." | 3.70 | Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. ( Dulac, O; Nabbout, R; Plouin, P; Soufflet, C, 1999) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 3.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride." | 3.70 | A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. ( Burglen, L; Cormier-Daire, V; Dagoneau, N; Desguerre, I; Dulac, O; Munnich, A; Nabbout, R; Penet, C; Soufflet, C, 2000) |
| "An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures." | 3.69 | Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. ( Brown, WF; McLachlan, RS, 1995) |
| "Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder." | 3.69 | Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. ( Baumeister, FA; Egger, J; Gsell, W; Shin, YS, 1994) |
| "The EEG features and clinical correlates were investigated before, directly after, and on long-term follow-up after initiation of pyridoxine therapy in 6 patients with B6-dependent epilepsy." | 3.68 | Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. ( Krishnamoorthy, KS; Lombroso, CT; Mikati, MA; Trevathan, E, 1991) |
| "Blood-brain barrier (BBB) permeability to macromolecules was assessed during seizures induced by pentylenetetrazole, bicuculline, methoxypyridoxine, methionine sulfoximine, and kainic acid." | 3.67 | Pathophysiological aspects of blood-brain barrier permeability in epileptic seizures. ( Goping, G; Klatzo, I; Nitsch, C, 1986) |
| "Acute isoniazid intoxication is characterised by high mortality and vomiting, seizures, coma and metabolic acidosis as main symptoms." | 3.67 | [Acute isoniazid poisoning]. ( Bode, U; Köster, B; Musch, E; Weber, HP, 1985) |
| "We report 4 infants with pyridoxine dependent seizures who had clinical features that led to diagnostic uncertainty." | 3.66 | Pyridoxine dependent seizures--a wider clinical spectrum. ( Bankier, A; Hopkins, IJ; Turner, M, 1983) |
| "Levetiracetam is a commonly used anti-seizure medication, with the development of neuropsychiatric symptoms being the most common side effect." | 3.30 | Can Pyridoxine Successfully Reduce Behavioral Side Effects from Levetiracetam?: A Critically Appraised Topic. ( Chhabra, N; Hoerth, MT; O'Carroll, CB; Sanchez, CV; Vanood, A, 2023) |
| "Among these, pyridoxine-dependent seizures due to antiquitin deficiency is by far the most common, although exact incidence data are lacking." | 2.49 | Pyridoxine and pyridoxalphosphate-dependent epilepsies. ( Plecko, B, 2013) |
| "Certain rare vitamin-responsive inborn errors of metabolism may present as early encephalopathy with anticonvulsant-resistant seizures." | 2.49 | [Vitamin-responsive epilepsies: an update]. ( Tabarki, B; Thabet, F, 2013) |
| "However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease." | 2.43 | [Neonatal epilepsy and inborn errors of metabolism]. ( Bahi-Buisson, N; de Lonlay, P; Desguerre, I; Dulac, O; Kaminska, A; Léger, PL; Mention, K; Nabbout, R; Plouin, P; Valayanopoulos, V, 2006) |
| " Corticotropin (adrenocorticotropic hormone) or corticosteroids have been the gold standard treatment for the last 40 years, but there is little agreement on the best agent to use, or the dosage and duration of the treatment." | 2.41 | A risk-benefit assessment of treatments for infantile spasms. ( Nabbout, R, 2001) |
| "Treatment with pyridoxine significantly improved the epileptic phenotype and extended lifespan in plpbp-/- animals." | 1.51 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. ( Abdelrahim, RA; Al Futaisi, A; Al-Shekaili, HH; Al-Thihli, K; Arnold, GL; Ban, K; Begtrup, A; Boon, M; Bosma, M; Boycott, KM; Brimble, E; Bui, T; Cho, MT; Ciapaite, J; Demarest, S; Drögemöller, B; Dyment, DA; Ekker, M; Friedman, JM; Gerkes, EH; Haaxma, CA; Heiner-Fokkema, MR; Houten, SM; Ito, Y; Ivy, AS; Jans, J; Johnstone, DL; Kamsteeg, EJ; Kema, IP; Kernohan, KD; Koolen, DA; Kosuta, C; Koul, R; Lepage, N; Lines, MA; Majewski, J; McBride, S; Noble, S; Olson, H; Pena, IA; Ross, CJ; Roussel, Y; Sigurdardottir, LY; Tarailo-Graovac, M; van Faassen, M; van Karnebeek, CDM; van Roermund, CWT; Verhoeven-Duif, N; Violante, S; Wanders, RJA; Wasserman, WW; Wevers, RA; Wolf, NI, 2019) |
| "The most common type of seizure was generalized tonic-clonic in 7 patients and the most common EEG pattern was characterized by a "burst suppression" pattern." | 1.48 | Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort. ( Burlina, A; Capovilla, G; De Liso, P; Falsaperla, R; Leuzzi, V; Marchiani, V; Mastrangelo, M; Murgia, A; Sartori, S; Striano, P; Suppiej, A; Toldo, I; Vari, MS; Vecchi, M; Vitaliti, G, 2018) |
| "Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism." | 1.48 | Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( Chanson, JB; Echaniz-Laguna, A; Mourot-Cottet, R; Noel, E, 2018) |
| "Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration." | 1.46 | Pyridoxine dependent epilepsies: new therapeutical point of view. ( Corsello, G; Falsaperla, R, 2017) |
| "Pyridoxal phosphate was extremely high in CSF and plasma." | 1.40 | Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( Abeling, NGGM; Bosch, AM; Cobben, JM; de Roo, MGA; Duran, M; Koelman, JHTM; Majoie, CB; Poll-The, BT, 2014) |
| "Vitamin B(6) dependent seizure disorders are an important and treatable cause of childhood epilepsy." | 1.39 | Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. ( Clayton, PT; Footitt, EJ; Heales, SJ; Mills, K; Mills, PB; Neergheen, V; Oppenheim, M, 2013) |
| "In contrast, motor seizures were rare, seen only in 18 day old rats (250 mg/kg of B6)." | 1.30 | Proconvulsant effects induced by pyridoxine in young rats. ( Kábová, R; Velísek, L; Veresová, S, 1998) |
| "Pyridoxine dependency is an uncommon familial cause of intractable seizures in newborns and infants." | 1.30 | Longitudinal MRI findings in pyridoxine-dependent seizures. ( Gospe, SM; Hecht, ST, 1998) |
| "Treatment with pyridoxine prevents the seizures and normalizes the EEG." | 1.29 | [Pyridoxine dependent seizures]. ( Hansen, KN; Møller, SM; Ostergaard, JR, 1994) |
| " In both groups, they measure tryptophan metabolites before and after L-tryptophan overload, the dosage being 100/mg/kg of body weight." | 1.27 | [Tryptophan metabolism in children with epilepsy]. ( Bayés García, R; del Castillo, ML; Maldonado Lozano, J; Molina Font, JA; Narbona López, E; Núñez del Carril, J; Robles Vizcaíno, C, 1984) |
| "A metallothionein-like protein has been identified recently in the rat brain which resembles in some but not all aspects a hepatic metallothionein." | 1.27 | Zinc-binding proteins in the brain. ( Ebadi, M; Hama, Y, 1986) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 66 (33.50) | 18.7374 |
| 1990's | 16 (8.12) | 18.2507 |
| 2000's | 30 (15.23) | 29.6817 |
| 2010's | 57 (28.93) | 24.3611 |
| 2020's | 28 (14.21) | 2.80 |
| Authors | Studies |
|---|---|
| Husebye, ESN | 1 |
| Riedel, B | 1 |
| Bjørke-Monsen, AL | 1 |
| Spigset, O | 1 |
| Daltveit, AK | 1 |
| Gilhus, NE | 1 |
| Bjørk, MH | 1 |
| Bayat, A | 1 |
| Aledo-Serrano, A | 1 |
| Gil-Nagel, A | 1 |
| Korff, CM | 1 |
| Thomas, A | 1 |
| Boßelmann, C | 1 |
| Weber, Y | 1 |
| Gardella, E | 1 |
| Lund, AM | 1 |
| de Sain-van der Velden, MGM | 1 |
| Møller, RS | 1 |
| Tsao, HS | 1 |
| Case, SD | 1 |
| Coughlin, CR | 5 |
| Tseng, LA | 4 |
| van Karnebeek, CDM | 6 |
| Abdenur, JE | 2 |
| Andrews, A | 1 |
| Aziz, VG | 1 |
| Bok, LA | 9 |
| Boyer, M | 2 |
| Buhas, D | 2 |
| Hartmann, H | 6 |
| Footitt, EJ | 5 |
| Grønborg, S | 1 |
| Janssen, MCH | 1 |
| Longo, N | 2 |
| Lunsing, RJ | 4 |
| MacKenzie, AE | 1 |
| Wijburg, FA | 2 |
| Gospe, SM | 9 |
| Pearl, PL | 5 |
| Lob, K | 1 |
| Bassell-Hawkins, J | 1 |
| Patil, R | 1 |
| Nie, D | 1 |
| Bartolini, L | 1 |
| Boonsimma, P | 1 |
| Ittiwut, C | 1 |
| Kamolvisit, W | 1 |
| Ittiwut, R | 1 |
| Chetruengchai, W | 1 |
| Phokaew, C | 1 |
| Srichonthong, C | 1 |
| Poonmaksatit, S | 1 |
| Desudchit, T | 1 |
| Suphapeetiporn, K | 1 |
| Shotelersuk, V | 1 |
| Crowther, LM | 2 |
| Poms, M | 1 |
| Zandl-Lang, M | 1 |
| Abela, L | 2 |
| Seiler, M | 1 |
| Mathis, D | 2 |
| Plecko, B | 13 |
| Cheraghmakani, H | 1 |
| Rezapour, M | 1 |
| Asghari, F | 1 |
| Alizadeh-Navaei, R | 1 |
| Ghazaeian, M | 1 |
| Tabrizi, N | 1 |
| İpek, R | 1 |
| Çavdartepe, BE | 1 |
| Kor, D | 1 |
| Okuyaz, Ç | 1 |
| Böhm, HO | 1 |
| Yazdani, M | 2 |
| Sandås, EM | 1 |
| Østeby Vassli, A | 1 |
| Kristensen, E | 3 |
| Rootwelt, H | 1 |
| Skogvold, HB | 1 |
| Brodtkorb, E | 2 |
| Elgstøen, KBP | 2 |
| Kalser, J | 1 |
| Giuliano, F | 1 |
| Peralta, M | 1 |
| Bölsterli, BK | 1 |
| Jamali, A | 1 |
| Tangeraas, T | 1 |
| Arntsen, V | 1 |
| Sikiric, A | 1 |
| Kupliauskiene, G | 1 |
| Myren-Svelstad, S | 1 |
| Berland, S | 1 |
| Sejersted, Y | 1 |
| Gerstner, T | 1 |
| Hassel, B | 1 |
| Bindoff, LA | 1 |
| Chhabra, N | 1 |
| Vanood, A | 1 |
| Hoerth, MT | 1 |
| Sanchez, CV | 1 |
| O'Carroll, CB | 1 |
| Fortin, O | 1 |
| Christoffel, K | 1 |
| Kousa, Y | 1 |
| Miller, I | 1 |
| Leon, E | 1 |
| Donoho, K | 1 |
| Mulkey, SB | 1 |
| Anwar, T | 1 |
| Garcia-Ezquiaga, J | 1 |
| Carrasco-Marina, ML | 1 |
| Gutierrez-Cruz, N | 1 |
| Iglesias-Escalera, G | 1 |
| Castro-Reguera, M | 1 |
| Perez-Gonzalez, B | 1 |
| Osman, C | 1 |
| Foulds, N | 1 |
| Hunt, D | 1 |
| Jade Edwards, C | 1 |
| Prevett, M | 1 |
| Romoli, M | 1 |
| Perucca, E | 1 |
| Sen, A | 1 |
| Al-Shekaili, HH | 2 |
| Petkau, TL | 1 |
| Pena, I | 1 |
| Lengyell, TC | 1 |
| Verhoeven-Duif, NM | 2 |
| Ciapaite, J | 2 |
| Bosma, M | 3 |
| van Faassen, M | 2 |
| Kema, IP | 2 |
| Horvath, G | 1 |
| Ross, C | 1 |
| Simpson, EM | 1 |
| Friedman, JM | 2 |
| van Karnebeek, C | 1 |
| Leavitt, BR | 1 |
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Minet, P | 1 |
| Sarret, C | 1 |
| Miret, A | 1 |
| Mention, K | 2 |
| Benoist, JF | 2 |
| Remerand, G | 1 |
| Ashmore, C | 1 |
| Boemer, F | 1 |
| Clayton, PT | 6 |
| Das, A | 1 |
| Dekker, H | 1 |
| Evangeliou, A | 1 |
| Feillet, F | 2 |
| Kara, M | 1 |
| Lee, J | 1 |
| Lilje, R | 1 |
| Mills, P | 2 |
| Papadopoulou, MT | 1 |
| Piazzon, F | 1 |
| Saini, AG | 1 |
| Santra, S | 1 |
| Sjarif, DR | 1 |
| Stockler-Ipsiroglu, S | 4 |
| Striano, P | 5 |
| Van Hove, JLK | 1 |
| Zuberi, SM | 2 |
| Espinoza, AC | 1 |
| Wright, MA | 1 |
| Candee, MS | 1 |
| Trandafir, C | 1 |
| Nelson, GR | 1 |
| Strijker, M | 1 |
| van Avezaath, LK | 1 |
| Oude Luttikhuis, MAM | 1 |
| Ketelaar, T | 1 |
| Coenen, MA | 1 |
| van Spronsen, FJ | 2 |
| Williams, M | 1 |
| de Vries, MC | 1 |
| Westerlaan, HE | 1 |
| Pal, DK | 1 |
| Williams, RE | 1 |
| Zweier, M | 1 |
| Begemann, A | 1 |
| Schmitt, B | 4 |
| Baethmann, M | 1 |
| Vari, MS | 2 |
| Beccaria, F | 1 |
| Zara, F | 3 |
| Joset, P | 1 |
| Sticht, H | 1 |
| Papuc, SM | 1 |
| Rauch, A | 1 |
| Lopez-Marin, L | 1 |
| Falsaperla, R | 3 |
| Corsello, G | 1 |
| Zabinyakov, N | 1 |
| Bullivant, G | 1 |
| Cao, F | 1 |
| Fernandez Ojeda, M | 1 |
| Jia, ZP | 1 |
| Wen, XY | 1 |
| Dowling, JJ | 1 |
| Salomons, GS | 2 |
| Mercimek-Andrews, S | 1 |
| Pena, IA | 2 |
| Roussel, Y | 2 |
| Daniel, K | 1 |
| Mongeon, K | 1 |
| Johnstone, D | 1 |
| Weinschutz Mendes, H | 1 |
| Saxena, V | 1 |
| Lepage, N | 2 |
| Chakraborty, P | 1 |
| Dyment, DA | 2 |
| Verhoeven-Duif, N | 2 |
| Bui, TV | 1 |
| Boycott, KM | 2 |
| Ekker, M | 2 |
| MacKenzie, A | 1 |
| Accorsi, P | 1 |
| Cellini, E | 1 |
| Paolantonio, CD | 1 |
| Panzarino, G | 1 |
| Verrotti, A | 1 |
| Giordano, L | 1 |
| Toldo, I | 1 |
| Murgia, A | 1 |
| Sartori, S | 1 |
| Vecchi, M | 1 |
| Suppiej, A | 1 |
| Burlina, A | 1 |
| Mastrangelo, M | 2 |
| Leuzzi, V | 1 |
| Marchiani, V | 1 |
| De Liso, P | 1 |
| Capovilla, G | 2 |
| Vitaliti, G | 1 |
| de Rooy, RLP | 1 |
| Halbertsma, FJ | 2 |
| Struijs, EA | 1 |
| Schippers, HM | 1 |
| van Hasselt, PM | 1 |
| Wohlrab, G | 2 |
| Whalen, S | 1 |
| Valence, S | 1 |
| Mills, PB | 4 |
| Oesch, G | 1 |
| Maga, AM | 1 |
| Friedman, SD | 1 |
| Poliachik, SL | 1 |
| Budech, CB | 1 |
| Wright, JN | 1 |
| Echaniz-Laguna, A | 1 |
| Mourot-Cottet, R | 1 |
| Noel, E | 1 |
| Chanson, JB | 1 |
| Johnstone, DL | 1 |
| Tarailo-Graovac, M | 1 |
| Wolf, NI | 1 |
| Ivy, AS | 1 |
| Demarest, S | 1 |
| van Roermund, CWT | 1 |
| Kernohan, KD | 1 |
| Kosuta, C | 1 |
| Ban, K | 1 |
| Ito, Y | 1 |
| McBride, S | 1 |
| Al-Thihli, K | 1 |
| Abdelrahim, RA | 1 |
| Koul, R | 1 |
| Al Futaisi, A | 1 |
| Haaxma, CA | 1 |
| Olson, H | 1 |
| Sigurdardottir, LY | 1 |
| Arnold, GL | 1 |
| Gerkes, EH | 1 |
| Boon, M | 1 |
| Heiner-Fokkema, MR | 1 |
| Noble, S | 1 |
| Jans, J | 1 |
| Koolen, DA | 1 |
| Kamsteeg, EJ | 1 |
| Drögemöller, B | 1 |
| Ross, CJ | 1 |
| Majewski, J | 1 |
| Cho, MT | 1 |
| Begtrup, A | 1 |
| Wasserman, WW | 1 |
| Bui, T | 1 |
| Brimble, E | 1 |
| Violante, S | 1 |
| Houten, SM | 1 |
| Wevers, RA | 4 |
| Lines, MA | 1 |
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| des Portes, V | 1 |
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| Thabet, F | 1 |
| de Roo, MGA | 1 |
| Abeling, NGGM | 1 |
| Majoie, CB | 1 |
| Bosch, AM | 1 |
| Koelman, JHTM | 1 |
| Cobben, JM | 1 |
| Duran, M | 1 |
| Poll-The, BT | 2 |
| Oliveira, R | 1 |
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| Struys, E | 9 |
| Salomons, G | 1 |
| Jakobs, C | 13 |
| Diogo, L | 1 |
| Yang, ZX | 2 |
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| Paul, K | 2 |
| Clayton, P | 1 |
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| Maier, O | 1 |
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| Struys, EA | 4 |
| Kyriakopoulou, L | 1 |
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| Hughes, MI | 1 |
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| Creadon-Swindell, G | 1 |
| Gallagher, RC | 1 |
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| Willemsen, MA | 3 |
| Teune, LK | 1 |
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| Hagebeuk, EE | 1 |
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| TULLIDGE, GM | 1 |
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| Brigati, G | 1 |
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| van Karnebeek, CD | 1 |
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| van der Lee, JH | 1 |
| Meyer, U | 1 |
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| Van Hove, J | 1 |
| Collet, JP | 1 |
| Plecko, BR | 1 |
| Al-Saman, AS | 1 |
| Rizk, TM | 1 |
| Nota, B | 1 |
| Bakkali, A | 1 |
| Al Shahwan, S | 1 |
| Tlili, A | 1 |
| Hamida Hentati, N | 1 |
| Chaabane, R | 1 |
| Gargouri, A | 1 |
| Fakhfakh, F | 1 |
| Hellström-Westas, L | 1 |
| Blennow, G | 1 |
| Rosén, I | 1 |
| Wang, H | 1 |
| Kuo, M | 1 |
| HUNT, AD | 1 |
| STOKES, J | 1 |
| McCRORY, WW | 1 |
| STROUD, HH | 1 |
| LIVINGSTON, S | 1 |
| JENG, MH | 1 |
| PETERSEN, DC | 1 |
| PFEIFFER, CC | 1 |
| JENNEY, EH | 1 |
| MARSHALL, WH | 1 |
| NOBILE, M | 2 |
| SOKOLOFF, L | 1 |
| LASSEN, NA | 1 |
| McKHANN, GM | 1 |
| TOWER, DB | 1 |
| ALBERS, W | 1 |
| NORDIO, S | 1 |
| SEGNI, G | 1 |
| GANDULLIA, E | 1 |
| CRAMER, H | 1 |
| GARTY, R | 1 |
| YONIS, Z | 1 |
| BRAHAM, J | 1 |
| STEINITZ, K | 1 |
| WALDINGER, C | 2 |
| BERG, RB | 1 |
| HAGBERG, B | 5 |
| HAMFELT, A | 3 |
| HANSSON, O | 10 |
| KOPELOFF, LM | 1 |
| CHUSID, JG | 1 |
| HOLT, KS | 1 |
| COCHRANE, WA | 1 |
| HOTTINGER, A | 1 |
| BERGER, H | 1 |
| KRAUTHAMMER, W | 1 |
| ARCANGELI, A | 1 |
| GREGORATOS, G | 1 |
| VENNES, GJ | 1 |
| MOSER, RH | 1 |
| BOWER, BD | 2 |
| DEVADATTA, S | 1 |
| MARIE, J | 1 |
| HENNEQUET, A | 1 |
| LYON, G | 1 |
| DEBRIS, P | 1 |
| LE BALLE, JC | 1 |
| Baynes, K | 1 |
| Farias, ST | 1 |
| ERNSTING, W | 1 |
| FERWERDA, TT | 1 |
| Gibson, KM | 1 |
| Wang, HS | 1 |
| Kuo, MF | 1 |
| Chou, ML | 1 |
| Hung, PC | 1 |
| Lin, KL | 1 |
| Hsieh, MY | 1 |
| Chang, MY | 1 |
| Hikel, C | 2 |
| Korenke, GC | 1 |
| Baumeister, F | 2 |
| Erwa, W | 3 |
| Sheth, RD | 1 |
| Stafstrom, CE | 1 |
| Hsu, D | 1 |
| Hoeger, H | 1 |
| Stromberger, C | 1 |
| Leschnik, M | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency[NCT06054347] | 30 participants (Anticipated) | Observational | 2023-11-01 | Not yet recruiting | |||
| Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units[NCT02551081] | 2,000 participants (Anticipated) | Observational | 2015-10-01 | Recruiting | |||
| Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine[NCT01795170] | 0 participants (Actual) | Observational | 2013-04-30 | Withdrawn (stopped due to The study couldn't be initiated as we did not secure funding.) | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
20 reviews available for pyridoxine and Aura
| Article | Year |
|---|---|
Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures.
Topics: Epilepsy; Humans; Infant, Newborn; Pyridoxine; Seizures | 2022 |
On pathways and blind alleys-The importance of biomarkers in vitamin B
Topics: Biomarkers; Epilepsy; Humans; Infant, Newborn; Pyridoxal Phosphate; Pyridoxine; Vitamin B 6; Vitamin | 2023 |
Pyridoxine supplementation for levetiracetam-related neuropsychiatric adverse events: A systematic review.
Topics: Anticonvulsants; Diagnostic Tests, Routine; Dietary Supplements; Drug Therapy, Combination; Epilepsy | 2020 |
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Topics: Aldehyde Dehydrogenase; Arginine; Consensus; Dietary Supplements; Epilepsy; Humans; International Co | 2021 |
Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.
Topics: Epilepsy; Humans; Oxidative Stress; Pyridoxine | 2021 |
[Metabolic approach in epileptic encephalopathies in infants].
Topics: Age of Onset; Biotin; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Child, Preschool | 2017 |
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Topics: Brain Diseases, Metabolic; Child; Epilepsy; Humans; Hypoxia-Ischemia, Brain; Pyridoxaminephosphate O | 2013 |
[Vitamin-responsive epilepsies: an update].
Topics: Avitaminosis; Biopterins; Biotinidase; Enzyme Replacement Therapy; Epilepsy; Folic Acid; Humans; Met | 2013 |
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Anticonvulsants; Biomarkers; Brain; DNA Mutational Analy | 2013 |
Sulthiame add-on therapy for epilepsy.
Topics: Anticonvulsants; Epilepsy; Female; Humans; Infant; Male; Pyridoxine; Randomized Controlled Trials as | 2015 |
New treatment paradigms in neonatal metabolic epilepsies.
Topics: Brain Diseases, Metabolic, Inborn; Electroencephalography; Epilepsy; Humans; Infant, Newborn; Pyrido | 2009 |
Inborn errors of metabolism causing epilepsy.
Topics: Age Factors; Epilepsy; Humans; Infant; Metabolism, Inborn Errors; Pyridoxine; Ubiquinone | 2013 |
Pyridoxine-dependent seizures and cognition in adulthood.
Topics: Adult; Agenesis of Corpus Callosum; Anticonvulsants; Cognition Disorders; Electroencephalography; Ep | 2003 |
Clinical aspects of the disorders of GABA metabolism in children.
Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; | 2004 |
Nonpharmacological treatment options for epilepsy.
Topics: Allylamine; Biofeedback, Psychology; Diet Therapy; Drug Combinations; Electric Stimulation; Electroe | 2005 |
[Neonatal epilepsy and inborn errors of metabolism].
Topics: Age Factors; Anticonvulsants; Biotin; Brain; Electroencephalography; Epilepsies, Myoclonic; Epilepsy | 2006 |
Homocysteine and neurologic disease.
Topics: Brain Diseases; Epilepsy; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Neurodegenerative | 2000 |
A risk-benefit assessment of treatments for infantile spasms.
Topics: Adrenocorticotropic Hormone; Anticonvulsants; Epilepsy; Humans; Immunoglobulins; Infant; Pyridoxine; | 2001 |
[Vitamin b6 and its significance in the pathology and treatment of various pathological conditions in children].
Topics: Age Factors; Anemia; Carboxy-Lyases; Child; Child, Preschool; Epilepsy; Heart Diseases; Hepatitis A; | 1972 |
8 trials available for pyridoxine and Aura
| Article | Year |
|---|---|
Pyridoxine for treatment of levetiracetam-induced behavioral adverse events: A randomized double-blind placebo-controlled trial.
Topics: Adult; Anticonvulsants; Double-Blind Method; Drug-Related Side Effects and Adverse Reactions; Epilep | 2022 |
Can Pyridoxine Successfully Reduce Behavioral Side Effects from Levetiracetam?: A Critically Appraised Topic.
Topics: Adult; Child; Epilepsy; Humans; Levetiracetam; Pyridoxine | 2023 |
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
Topics: Aldehyde Dehydrogenase; Asian People; China; DNA Mutational Analysis; Epilepsy; Female; Humans; Infa | 2014 |
Pyridoxine supplementation for the treatment of levetiracetam-induced behavior side effects in children: preliminary results.
Topics: Adolescent; Anticonvulsants; Behavioral Symptoms; Child; Child, Preschool; Epilepsy; Female; Humans; | 2008 |
Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment.
Topics: Adolescent; Anticonvulsants; Biomarkers; Child; Child, Preschool; Epilepsy; Female; Humans; Male; Py | 2012 |
Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children.
Topics: Anticonvulsants; Child; Child, Preschool; Dose-Response Relationship, Drug; Drug Therapy, Combinatio | 1997 |
[Pharmacological and biochemical approach to a syndrome of action and intention myoclonus in the course of degenerative disease of the nervous system].
Topics: 5-Hydroxytryptophan; Adult; Benzazepines; Cerebellar Ataxia; Clinical Trials as Topic; Diagnosis, Di | 1973 |
[Lymphogenous encephalopathy: a new clinical picture and its management].
Topics: Adult; Animals; Brain Diseases; Cerebrospinal Fluid; Cerebrovascular Circulation; Child; Clinical Tr | 1967 |
169 other studies available for pyridoxine and Aura
| Article | Year |
|---|---|
Vitamin B status and association with antiseizure medication in pregnant women with epilepsy.
Topics: Adolescent; Adult; Child; Cohort Studies; Cross-Sectional Studies; Epilepsy; Female; Folic Acid; Hum | 2021 |
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Topics: Cohort Studies; Drug Resistant Epilepsy; Epilepsy; Female; Glycosylphosphatidylinositols; Humans; In | 2022 |
A case for newborn screening for pyridoxine-dependent epilepsy.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Infant, Newborn; Neonatal Screening; Pyridoxine; Seizures | 2022 |
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Topics: Activities of Daily Living; Cohort Studies; Epilepsy; Humans; Lysine; Pyridoxine; Retrospective Stud | 2022 |
Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies.
Topics: Epilepsy; Humans; Pharmaceutical Preparations; Pyridoxine; Vitamins | 2022 |
Vitamin B6 decreases the risk of levetiracetam discontinuation in children with epilepsy: A retrospective study.
Topics: Anticonvulsants; Child; Drug-Related Side Effects and Adverse Reactions; Epilepsy; Humans; Levetirac | 2022 |
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Topics: DNA Copy Number Variations; Epilepsy; Exome Sequencing; Genetic Testing; Humans; Infant; Pyridoxine | 2023 |
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Lysine; Metabolomics; Pyridoxine; Seizures | 2023 |
Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.
Topics: Aldehyde Dehydrogenase; Anticonvulsants; Child, Preschool; Epilepsy; Female; Homozygote; Humans; Inf | 2022 |
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.
Topics: Aldehyde Dehydrogenase; Biomarkers; Epilepsy; Humans; Infant; Infant, Newborn; Pyridoxine | 2022 |
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
Topics: Child, Preschool; Epilepsy; Head Movements; Humans; Infant; Infant, Newborn; Pyridoxine; Spasm; Spas | 2023 |
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Topics: Adolescent; Adult; Aldehyde Dehydrogenase; Child; Child, Preschool; Epilepsy; Humans; Infant; Middle | 2023 |
Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Infant, Newborn; Pyridoxine; Seizures; Vitamin B 6 | 2023 |
[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].
Topics: Adolescent; Brain Diseases, Metabolic; Chromosomes, Human, Pair 17; Epilepsy; Female; Humans; Hypoxi | 2019 |
Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.
Topics: Adolescent; Age of Onset; Aldehyde Dehydrogenase; Epilepsy; Female; Humans; Mutation; Pyridoxine; St | 2020 |
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Topics: Aldehyde Dehydrogenase; Animals; Behavior, Animal; Disease Models, Animal; Epilepsy; Female; Lysine; | 2020 |
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation).
Topics: Arginine; Biomarkers; Child, Preschool; Dietary Supplements; Epilepsy; Female; Humans; Lysine; Pipec | 2021 |
Child Neurology: Late-Onset Vitamin B
Topics: Child, Preschool; Epilepsy; Humans; Male; Proteins; Pyridoxine; Vitamin B 6; Vitamin B 6 Deficiency; | 2021 |
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.
Topics: Adolescent; Adult; Aldehyde Dehydrogenase; Child; Child, Preschool; Cognition; Cross-Sectional Studi | 2021 |
Response to pyridoxine in CACNA1A epilepsy-ataxia does not imply a causal effect.
Topics: Ataxia; Calcium Channels; Cerebellar Ataxia; Epilepsy; Humans; Pyridoxine | 2021 |
Confirmation of mutations in
Topics: Adolescent; Adult; Alleles; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Electro | 2017 |
Pyridoxine dependent epilepsies: new therapeutical point of view.
Topics: Anticonvulsants; Brain Diseases, Metabolic; Child, Preschool; Electroencephalography; Epilepsy; Fema | 2017 |
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
Topics: Action Potentials; Aldehyde Dehydrogenase; Animals; Behavior, Animal; Clustered Regularly Interspace | 2017 |
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Topics: Aldehyde Dehydrogenase; Animals; Disease Models, Animal; Epilepsy; gamma-Aminobutyric Acid; Gene Kno | 2017 |
Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.
Topics: Brain; Early Medical Intervention; Epilepsy; Humans; Infant, Newborn; Oxidoreductases; Pyridoxaminep | 2017 |
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Topics: Adolescent; Anticonvulsants; Child; Child, Preschool; Cohort Studies; Epilepsy; Female; Humans; Infa | 2018 |
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Topics: Age of Onset; Aldehyde Dehydrogenase; Epilepsy; Female; Genotype; Humans; Infant; Intellectual Disab | 2018 |
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.
Topics: Adolescent; Adult; Age Factors; Case-Control Studies; Child; Child, Preschool; Corpus Callosum; Epil | 2018 |
Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Pyridoxine | 2018 |
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
Topics: Adult; Ataxia; Dose-Response Relationship, Drug; Epilepsy; Female; Homocystinuria; Humans; Polyneuro | 2018 |
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Topics: Animals; Disease Models, Animal; Epilepsy; Female; HEK293 Cells; Humans; Male; Phenotype; Proteins; | 2019 |
High-Fidelity Simulation Scenario: Pyridoxine-Dependent Epilepsy and Treatment.
Topics: Clinical Competence; Emergency Medicine; Epilepsy; High Fidelity Simulation Training; Humans; Infant | 2018 |
The effectiveness of correcting abnormal metabolic profiles.
Topics: 3-Hydroxysteroid Dehydrogenases; Administration, Oral; Bile Acids and Salts; Epilepsy; Humans; Metab | 2020 |
Congenital cataract in a child with pyridoxine-dependent epilepsy.
Topics: Aldehyde Dehydrogenase; Cataract; Child, Preschool; Disease Progression; Epilepsy; Female; Humans; M | 2013 |
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.
Topics: Aldehyde Dehydrogenase; Child; Electroencephalography; Epilepsy; Female; Humans; Mutation; Pyridoxin | 2013 |
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
Topics: Alkaline Phosphatase; Drug Resistance; Epilepsy; Humans; Hypophosphatasia; Infant; Male; Pyridoxal P | 2014 |
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Topics: Adult; Aldehyde Dehydrogenase; Child; Electroencephalography; Epilepsy; Humans; Male; Mutation; Pyri | 2013 |
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Topics: Aldehyde Dehydrogenase; Alleles; Animals; Brain Diseases, Metabolic; CHO Cells; Chromosome Deletion; | 2014 |
Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
Topics: Adolescent; Aldehyde Dehydrogenase; Child; Epilepsy; Humans; Male; Mutation; Neural Conduction; Neur | 2015 |
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
Topics: Aldehyde Dehydrogenase; Anticonvulsants; Brain; Diagnosis, Differential; DNA Mutational Analysis; El | 2015 |
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Topics: Aldehyde Dehydrogenase; Arginine; Child; Dietary Supplements; Epilepsy; Humans; Lysine; Male; Pyrido | 2014 |
Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
Topics: Administration, Oral; Diagnosis, Differential; Epilepsy; Female; Genetic Testing; Humans; Infant, Ne | 2015 |
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Topics: Aldehyde Dehydrogenase; Anticonvulsants; Bulgaria; Child; Child, Preschool; Dietary Supplements; DNA | 2015 |
Long-term outcome in pyridoxine-responsive infantile epilepsy.
Topics: Anticonvulsants; Epilepsy; Female; Humans; Infant; Male; Pyridoxine; Vitamin B Complex | 2015 |
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Topics: Acids; Aldehyde Dehydrogenase; Amino Acids; Asian People; Child, Preschool; Cohort Studies; Electroe | 2015 |
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.
Topics: Animals; Basic-Leucine Zipper Transcription Factors; Brain; Diet; Electroencephalography; Epilepsy; | 2016 |
Oral formulation of pyridoxine for the treatment of pyridoxinedependent epilepsy in a paediatric patient.
Topics: Drug Compounding; Epilepsy; Female; Humans; Hyperlysinemias; Infant, Newborn; Pipecolic Acids; Pyrid | 2016 |
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Topics: Child; Child, Preschool; Dietary Supplements; Epilepsy; Fatal Outcome; Female; Humans; Infant; Infan | 2016 |
[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Topics: Aldehyde Dehydrogenase; Asian People; Child; Child, Preschool; Delayed Diagnosis; DNA Mutational Ana | 2016 |
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Adolescent; Aldehyde Dehydrogenase; Arginine; Child; Child, Preschool; Cohort St | 2017 |
Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation.
Topics: Anticonvulsants; Brain; Calcium Channels; Child; Drug Resistant Epilepsy; Epilepsy; Epilepsy, Absenc | 2017 |
Drug-induced pertubation of the aminothiol redox-status in patients with epilepsy: improvement by B-vitamins.
Topics: Adult; Anticonvulsants; Carbamazepine; Case-Control Studies; Cysteine; Dipeptides; Drug Evaluation; | 2008 |
The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Animals; Crystallography, X-Ray; Epilepsy; Fish Proteins | 2008 |
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pyridoxal Phos | 2007 |
Guidelines for diagnosis and management of childhood epilepsy.
Topics: Algorithms; Anticonvulsants; Child; Child, Preschool; Diazepam; Electroencephalography; Epilepsy; Hu | 2009 |
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Topics: Adult; Anticoagulants; Anticonvulsants; Epilepsy; Female; Folic Acid; Homocystinuria; Humans; Hyperh | 2010 |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Topics: Aldehyde Dehydrogenase; Anticonvulsants; Brain; Brain Diseases, Metabolic; Diagnosis, Differential; | 2010 |
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Topics: Anticonvulsants; Brain; Brain Diseases, Metabolic; Electroencephalography; Epilepsy; Eye Movements; | 2010 |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biomarkers; Epilepsy; Female; Genotype; Humans; Infant; | 2010 |
Recent insights into pre- and postnatal pyridoxal phosphate deficiency, a treatable metabolic encephalopathy.
Topics: Age of Onset; Anticonvulsants; Brain; Brain Diseases, Metabolic; Diagnosis, Differential; Electroenc | 2010 |
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Topics: Adolescent; Adult; Aldehyde Dehydrogenase; Anticonvulsants; Child; Child, Preschool; Colorado; Devel | 2010 |
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
Topics: Aldehyde Dehydrogenase; Diagnosis, Differential; Electroencephalography; Epilepsy; Female; Humans; I | 2010 |
Pyridoxine (vitamin B6) in epilepsy; a clinical trial.
Topics: Epilepsy; Humans; Pyridoxine; Vitamin B 6 | 1946 |
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures.
Topics: Anticonvulsants; Child; Epilepsy; Humans; Male; Pyridoxine; Seizures; Treatment Outcome | 2012 |
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
Topics: Adult; Aldehyde Dehydrogenase; Epilepsy; Female; Humans; Infant; Infant, Newborn; Infusions, Parente | 2011 |
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
Topics: Adolescent; Aldehyde Dehydrogenase; Corpus Callosum; Diffusion Magnetic Resonance Imaging; Electroen | 2011 |
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Acidosis, Lactic; Aldehyde Dehydrogenase; Alleles; Anticonvulsants; Brain; Diffu | 2012 |
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Metabolism, Inborn Er | 2013 |
A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings.
Topics: Adolescent; Anticonvulsants; Aspartic Acid; Biomarkers; Brain; Child; Creatinine; Disease Progressio | 2012 |
Long-term outcome in pyridoxine-dependent epilepsy.
Topics: Adolescent; Age Factors; Aldehyde Dehydrogenase; Brain; Child; Child, Preschool; Cohort Studies; Cor | 2012 |
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Child; Child, Preschool; Cognition; Diet; Epilepsy; Fema | 2012 |
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Electroencephalography; Epilepsy; Humans; Infant; Magnetic Resonance Imaging; Ma | 2012 |
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Di | 2012 |
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
Topics: Adult; Aldehyde Dehydrogenase; Epilepsy; Founder Effect; Genotype; Humans; Male; Microsatellite Repe | 2013 |
Amplitude-integrated encephalography in pyridoxine-dependent seizures and pyridoxine-responsive seizures.
Topics: Brain; Electroencephalography; Epilepsy; Humans; Infant, Newborn; Male; Pyridoxine | 2002 |
Pyridoxine sometimes fails to be activated to pyridoxal phosphate.
Topics: Epilepsy; Humans; Pyridoxal Phosphate; Pyridoxine | 2002 |
Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine.
Topics: Child; Epilepsy; Humans; Infant; Pyridoxine; Seizures; Vitamin B 6 | 1954 |
Ineffectiveness of pyridoxine (vitamin B6) in the treatment of epilepsy.
Topics: Epilepsy; Humans; Pyridoxine; Vitamin B 6 | 1955 |
Experimental seizures in man and animals with acute pyridoxine deficiency produced by hydrazides.
Topics: Animals; Electroencephalography; Epilepsy; Humans; Male; Pyridoxine; Seizures; Vitamin B 6 Deficienc | 1956 |
[Effects of pyridoxine on disposition toward experimental reflex epilepsy].
Topics: Epilepsy; Epilepsy, Reflex; Humans; Personality; Pyridoxine; Vitamin B 6 | 1956 |
[Effects of pyridoxine on disposition toward experimental reflex epilepsy].
Topics: Epilepsy; Epilepsy, Reflex; Humans; Personality; Pyridoxine; Vitamin B 6 | 1956 |
[Effects of pyridoxine on disposition toward experimental reflex epilepsy].
Topics: Epilepsy; Epilepsy, Reflex; Humans; Personality; Pyridoxine; Vitamin B 6 | 1956 |
[Effects of pyridoxine on disposition toward experimental reflex epilepsy].
Topics: Epilepsy; Epilepsy, Reflex; Humans; Personality; Pyridoxine; Vitamin B 6 | 1956 |
Effects of pyridoxine withdrawal on cerebral circulation and metabolism in a pyridoxine-dependent child.
Topics: Brain; Cerebrovascular Circulation; Epilepsy; Humans; Pyridoxine; Vitamin B Deficiency; Vitamins | 1959 |
["Pyridoxine-dependent convulsions". Ist report in Italian literature].
Topics: Child; Epilepsy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Pyridoxine; Seizures; V | 1961 |
[Pyridoxin-dependent convulsions in infants. Metabolic-genetic epilepsy].
Topics: Child; Epilepsy; Genetics, Medical; Humans; Infant; Pyridoxine; Seizures; Vitamin B 6 | 1962 |
Pyridoxine-dependent convulsions in an infant.
Topics: Child; Epilepsy; Humans; Infant; Pyridoxine; Seizures; Vitamin B 6 Deficiency | 1962 |
SIGNS OF PYRIDOXINE DEPENDENCY MANIFEST AT BIRTH IN SIBLINGS.
Topics: Epilepsy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Parturition; Physical | 1963 |
EPILEPTIC CHILDREN WITH DISTURBED TRYTOPHAN METABOLISM TREATED WITH VITAMIN B6.
Topics: Child; Epilepsy; Humans; Metabolism; Pyridoxine; Tryptophan; Urine; Vitamin B 6; Xanthurenates | 1964 |
METHOXYPYRIDOXINE CONVULSIONS IN EPILEPTIC AND NON-EPILEPTIC MICE. PROTECTIVE ACTION OF PYRIDOXINE.
Topics: Animals; Anticonvulsants; Antimetabolites; Epilepsy; Mice; Pharmacology; Pyridoxine; Research; Seizu | 1963 |
EPILEPSY AND LUPUS ERYTHEMATOSUS.
Topics: Acetazolamide; Amphetamine; Anticonvulsants; Child; Dexamethasone; Diagnosis; Epilepsy; Lupus Erythe | 1964 |
NUTRITION RESEARCH IN PAEDIATRICS.
Topics: Canada; Child; Diet; Diet Therapy; Epilepsy; Epilepsy, Absence; Humans; Infant; Infant Nutritional P | 1964 |
PRIDOXINE DEFICIENCY AND PYRIDOXINE DEPENDENCY IN INFANTS AND CHILDREN.
Topics: Biochemical Phenomena; Biochemistry; Child; Epilepsy; Female; Genetics, Medical; Humans; Infant; Inf | 1964 |
[CLINICAL OBSERVATIONS ON THE PROBLEM OF VITAMIN B 6 METABOLISM].
Topics: Body Fluids; Electroencephalography; Encephalitis; Epilepsy; Humans; Intellectual Disability; Pyrido | 1964 |
[EPILEPTIC SYNDROMES WITHIN THE FRAMEWORK OF CHRONIC HEADACHE].
Topics: Anticonvulsants; Diencephalon; Endocrinology; Epilepsy; Epilepsy, Absence; Epilepsy, Temporal Lobe; | 1964 |
CONGENITAL INCLUSION BODY HEMOLYTIC ANEMIA ASSOCIATED WITH EPILEPSY AND DISORDERED PYRIDOXINE METABOLISM.
Topics: Adolescent; Anemia; Anemia, Hemolytic, Congenital; Bile Pigments; Child; Epilepsy; Erythrocytes; Glu | 1964 |
TRYPTOPHAN-TOLERANCE TESTS AND VITAMIN B6 (PYRIDOXINE) METABOLISM IN EPILEPTIC CHILDREN.
Topics: Amino Acids; Child; Epilepsy; Humans; Metabolism; Pyridoxine; Tryptophan; Urine; Vitamin B 6; Xanthu | 1965 |
PYRIDOXINE, TRYPTOPHAN AND EPILEPSY.
Topics: Child; Diagnosis; Epilepsy; Humans; Metabolism; Pyridoxine; Tryptophan; Vitamin B 6 Deficiency | 1965 |
ISONIAZID-INDUCED ENCEPHALOPATHY.
Topics: Brain Diseases; Drug Therapy; Epilepsy; Epilepsy, Tonic-Clonic; Isoniazid; Peripheral Nervous System | 1965 |
[Pyridoxine-dependence, a metabolic disease manifested by pyridoxine-sensitive convulsive seizures. (First familial case)].
Topics: Child; Epilepsy; Humans; Infant; Metabolic Diseases; Pyridoxine; Seizures; Vitamin B 6 Deficiency | 1961 |
[Vitamin B6 (pyridoxine, adermine) in epilepsy therapy].
Topics: Epilepsy; Humans; Pyridoxine; Vitamin B 6 | 1951 |
Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy.
Topics: Administration, Oral; Adolescent; Anticonvulsants; Child; Child, Preschool; Drug Administration Sche | 2005 |
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Topics: Anticonvulsants; Biomarkers; Brain; Epilepsy; Humans; Infant; Infant, Newborn; Pipecolic Acids; Pyri | 2005 |
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
Topics: Animal Nutritional Physiological Phenomena; Animals; Brain; Disease Models, Animal; Epilepsy; Female | 2005 |
Epidemiology of pyridoxine dependent seizures in the Netherlands.
Topics: Epilepsy; Female; Humans; Incidence; Infant, Newborn; Male; Netherlands; Pyridoxine; Vitamin B Compl | 2005 |
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.
Topics: Child; Electroencephalography; Epilepsy; Follow-Up Studies; Humans; Male; Pipecolic Acids; Pyridoxin | 2005 |
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.
Topics: Diagnosis, Differential; Electroencephalography; Epilepsy; Female; Humans; Infant; Pyridoxine; Statu | 2005 |
Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study.
Topics: Adolescent; Age of Onset; Anticonvulsants; Child; Child, Preschool; Drug Resistance; Electroencephal | 2005 |
Folinic acid-responsive seizures initially responsive to pyridoxine.
Topics: Epilepsy; Humans; Infant; Infant, Newborn; Leucovorin; Male; Metabolism, Inborn Errors; Pyridoxine; | 2006 |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Topics: Aldehyde Dehydrogenase; Amino Acid Sequence; DNA Mutational Analysis; Epilepsy; Female; Humans; Infa | 2007 |
The role of nitric oxide in the anticonvulsant effects of pyridoxine on penicillin-induced epileptiform activity in rats.
Topics: Analysis of Variance; Animals; Anticonvulsants; Arginine; Disease Models, Animal; Dose-Response Rela | 2007 |
Pyridoxine-dependent epilepsy initially responsive to phenobarbital.
Topics: Electroencephalography; Epilepsy; Female; Follow-Up Studies; Humans; Infant, Newborn; Pyridoxine; Re | 2007 |
[Biochemical aspects of pathophysiology and treatment of intractable epilepsy in children].
Topics: Adrenocorticotropic Hormone; Animals; Child; Child, Preschool; Epilepsy; Humans; Indoles; Male; Pyri | 1983 |
Pyridoxine responsive epilepsy: expanded pyridoxine dependency?
Topics: Epilepsy; Female; Humans; Infant; Pyridoxine | 1983 |
[Tryptophan metabolism in children with epilepsy].
Topics: Adolescent; Child; Child, Preschool; Epilepsy; Female; Humans; Infant; Kynurenine; Male; Pyridoxine; | 1984 |
Pyridoxine dependent seizures--a wider clinical spectrum.
Topics: Epilepsy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Pyridoxine; Seiz | 1983 |
Poisson regression analysis in clinical research.
Topics: Epilepsy; Humans; Mathematical Computing; Models, Biological; Placebos; Poisson Distribution; Pyrido | 1995 |
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy.
Topics: Action Potentials; Adolescent; Electrophysiology; Epilepsy; Ganglia, Spinal; Humans; Iatrogenic Dise | 1995 |
Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine.
Topics: Adrenocorticotropic Hormone; Electroencephalography; Epilepsy; gamma-Aminobutyric Acid; Genes, Reces | 1994 |
[Pyridoxine dependent seizures].
Topics: Consanguinity; Denmark; Epilepsy; Female; Genes, Recessive; Humans; Infant, Newborn; Pedigree; Pyrid | 1994 |
[West syndrome: pyridoxine insufficiency?].
Topics: Epilepsy; Female; Humans; Infant; Male; Pyridoxine; Spasms, Infantile; Vitamin B 6 Deficiency | 1993 |
Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion.
Topics: Clinical Trials as Topic; Epilepsy; Female; Humans; Infant; Injections, Intravenous; Pyridoxine; Ris | 1996 |
Proconvulsant effects induced by pyridoxine in young rats.
Topics: Aging; Animals; Brain; Convulsants; Electroencephalography; Epilepsy; Female; Male; Motor Activity; | 1998 |
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.
Topics: Dinucleotide Repeats; DNA Mutational Analysis; Epilepsy; Female; gamma-Aminobutyric Acid; Genetic Ma | 1998 |
Longitudinal MRI findings in pyridoxine-dependent seizures.
Topics: Atrophy; Brain; Child; Child, Preschool; Epilepsy; Female; gamma-Aminobutyric Acid; Glutamate Decarb | 1998 |
Antiepileptic drug treatment of West syndrome.
Topics: Adrenocorticotropic Hormone; Anticonvulsants; Child; Drug Administration Schedule; Drug Therapy, Com | 1998 |
Elevated plasma concentrations of homocysteine in antiepileptic drug treatment.
Topics: Age Factors; Ambulatory Care; Anticonvulsants; Carbamazepine; Convulsants; Depression, Chemical; Epi | 1999 |
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.
Topics: Electroencephalography; Epilepsy; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Pedigree | 1999 |
A paradoxical rise of neonatal seizures after treatment with vitamin B6.
Topics: Electroencephalography; Epilepsy; Humans; Infant, Newborn; Injections, Intravenous; Male; Periodicit | 1998 |
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Child; Epilepsy; Humans; Infant, Newborn; Male; Picolinic Acids; Pipecolic Acids | 2000 |
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 5; Consanguinity; Epilepsy; Female; Genes, Recessive; G | 2000 |
A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Autistic Disorder; Diagnosis, Dif | 2000 |
Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization.
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Animals; Calcification, Physiologic; Cell Culture Tec | 2001 |
Pyridoxine treatment in a subgroup of children with pervasive developmental disorders.
Topics: Child; Child Development Disorders, Pervasive; Cognition Disorders; Epilepsy; Female; Humans; Intell | 2002 |
Letter: Pyridoxine and serum concentration of phenytoin and phenobarbitone.
Topics: Child; Epilepsy; Female; Humans; Phenobarbital; Phenytoin; Pyridoxine; Time Factors | 1976 |
[Tryptophan metabolism and oligophrenia (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Down Syndrome; Epilepsy; Hartnup Disease; Humans; Intellectual | 1978 |
Vitamin B6-dependent seizures: pathology and chemical findings in brain.
Topics: Adolescent; Adult; Amino Acids; Brain; Cerebellar Cortex; Cerebral Cortex; Child; Child, Preschool; | 1978 |
[A state of "epileptoid pathological impulsiveness" secondary to occasional dyspyridoxinosis caused by prolonged administration of isoniazid].
Topics: Child; Electroencephalography; Epilepsy; Humans; Isoniazid; Male; Pyridoxine; Tuberculosis, Pulmonar | 1975 |
Letter: Sodium valproate in the treatment of intractable childhood epilepsy.
Topics: Diazepam; Drug Therapy, Combination; Epilepsy; Phenobarbital; Phenytoin; Primidone; Pyridoxine; Vale | 1975 |
Postneonatal vitamin B6-dependent epilepsy.
Topics: Anticonvulsants; Child, Preschool; Epilepsies, Myoclonic; Epilepsies, Partial; Epilepsy; Epilepsy, A | 1992 |
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up.
Topics: Brain; Electroencephalography; Epilepsy; Follow-Up Studies; Humans; Infant; Infant, Newborn; Pyridox | 1991 |
[Administration of high doses of B6 in age-related epileptic encephalopathies].
Topics: Child, Preschool; Electroencephalography; Epilepsy; Female; Humans; Infant; Male; Pyridoxine; Spasms | 1989 |
Dietary pyridoxine loadings affect incidence of "spontaneous" seizures among magnesium-deprived Mongolian gerbils (Meriones unguiculatus).
Topics: Animals; Cerebral Cortex; Epilepsy; Gerbillinae; Magnesium; Magnesium Deficiency; Male; Pyridoxine; | 1988 |
Pathophysiological aspects of blood-brain barrier permeability in epileptic seizures.
Topics: Animals; Bicuculline; Blood Pressure; Blood-Brain Barrier; Cerebrovascular Circulation; Endothelium; | 1986 |
Zinc-binding proteins in the brain.
Topics: Animals; Carrier Proteins; Epilepsy; Humans; Metalloproteins; Metallothionein; Nerve Tissue Proteins | 1986 |
B vitamins in epileptics.
Topics: Adult; Anticonvulsants; Biotin; Epilepsy; Erythrocytes; Female; Humans; Male; Pyridoxal Phosphate; P | 1986 |
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants.
Topics: Child, Preschool; Electroencephalography; Epilepsy; Female; Humans; Infant; Male; Pyridoxine; Status | 1985 |
Incongruence of regional cerebral blood flow increase and blood-brain barrier opening in rabbits at the onset of seizures induced by bicuculline, methoxypyridoxine, and kainic acid.
Topics: Animals; Bicuculline; Blood Pressure; Blood-Brain Barrier; Brain; Epilepsy; Kainic Acid; Male; Nicot | 1985 |
[Acute isoniazid poisoning].
Topics: Acidosis; Coma; Dose-Response Relationship, Drug; Epilepsy; Female; Humans; Infant; Isoniazid; Metab | 1985 |
[Significance of pyridoxine and gamma-aminobutyric acid in cerebral seizures].
Topics: Animals; Epilepsy; gamma-Aminobutyric Acid; Humans; Infant, Newborn; Pyridoxine; Vitamin B 6 Deficie | 1971 |
Folic acid and anticonvulsants.
Topics: Anticonvulsants; Epilepsy; Folic Acid; Humans; Hydantoins; Phenylalanine; Primidone; Pyridoxine | 1968 |
Uncommon EEG findings in hepato-lenticular degeneration.
Topics: Cerebral Cortex; Child; Dimercaprol; Electroencephalography; Epilepsy; Female; Hepatolenticular Dege | 1969 |
Effect of treatment on the metabolism of tryptophan in childhood epilepsy.
Topics: Adrenal Cortex Hormones; Adrenocorticotropic Hormone; Brain Diseases; Child; Child, Preschool; Elect | 1967 |
[Study of the therapeutic action of a combination of vitamins B1, B6 and hydroxocobalamin in large doses].
Topics: Adult; Aged; Anemia; Brain Diseases; Epilepsy; Facial Paralysis; Fatty Liver; Female; Hemiplegia; He | 1968 |
Effect of treatment on tryptophan metabolism in childhood epilepsy.
Topics: Adrenocorticotropic Hormone; Adult; Anticonvulsants; Central Nervous System Diseases; Child; Child, | 1969 |
Neurological disorders and adult coeliac disease.
Topics: Action Potentials; Adult; Aged; Anemia; Calcium; Celiac Disease; Depression; Diet; Epilepsy; Female; | 1970 |
Iatrogenic nutritional effects of anticonvulsants.
Topics: Adolescent; Adult; Anticonvulsants; Blood Coagulation Disorders; Bone Diseases; Child; Child, Presch | 1974 |
[Pathogenesis of cerebral damage in homocystinuria].
Topics: Brain; Brain Diseases; Cerebrovascular Disorders; Child; Electroencephalography; Epilepsy; Female; H | 1973 |
[On the pharmacotherapeutic treatment of cerebral palsy. II. Treatment of oligophrenia and epilepsy].
Topics: Cerebral Palsy; Child; Child, Preschool; Chlorpromazine; Epilepsy; Epilepsy, Absence; Glutamates; Hu | 1965 |
The tryptophan loading test in epileptic children.
Topics: Adolescent; Adult; Child; Child, Preschool; Electroencephalography; Epilepsy; Epilepsy, Absence; Fem | 1965 |
Convulsive effects of 4-deoxypyridoxine and of bicuculline in photosensitive baboons (Papio papio) and in rhesus monkeys (Macaca mulatta).
Topics: Alkaloids; Aminobutyrates; Animals; Electrocardiography; Electroencephalography; Epilepsy; Haplorhin | 1971 |
Tryptophan loading and pyridoxine treatment in children with epilepsy.
Topics: Child; Epilepsy; Humans; Kynurenine; Pyridoxine; Tryptophan; Vitamin B 6 Deficiency; Xanthurenates | 1969 |
Apparent response of impaired mental development, minor motor epilepsy and ataxia to pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Ataxia; Child; Child, Preschool; Electroencephalography; Epile | 1969 |
Tryptophan load test and pyridoxine treatment in epileptic children.
Topics: Epilepsy; Humans; Hydrolases; Kinetics; Kynurenine; ortho-Aminobenzoates; Pyridoxine; Tryptophan; Vi | 1967 |
Kinetics of urinary excretion of 3-hydroxykynurenine and 3-hydroxyanthranilic acid after tryptophan loading in man.
Topics: Adolescent; Adult; Child; Chromatography, Thin Layer; Epilepsy; Female; Humans; Hydrolases; Kynureni | 1968 |
Tryptophan load tests in children with epilepsy.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography; Epilepsy; Female; Humans; Kynurenine; Ma | 1968 |
Effect of pyridoxine treatment in children with epilepsy.
Topics: Adolescent; Child; Epilepsy; Female; Humans; Male; Pyridoxine; Seizures; Vitamin B 6 Deficiency | 1968 |
Effect of phenytoin on the tryptophan load test.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Diagnosis, Differential; Epilepsy; Female; Humans; | 1968 |
Tryptophan loading in tuberous sclerosis.
Topics: Adolescent; Adult; Anticonvulsants; Body Weight; Epilepsy; Female; Humans; Intellectual Disability; | 1969 |
Tryptophan load tests and pyridoxal-5-phosphate levels in epileptic children. I. Non-progressive brain damage and degenerative brain disorders.
Topics: Adolescent; Brain Diseases; Child; Child, Preschool; Epilepsy; Female; Humans; Infant; Male; Pyridox | 1966 |
Tryptophan load tests and pyridoxal-5-phosphate levels in epileptic children. II. Cryptogenic epilepsy.
Topics: Child; Child, Preschool; Epilepsy; Humans; Infant; Pyridoxal Phosphate; Pyridoxine; Tryptophan | 1966 |
Frequency of relative pyridoxine dependency in epileptic children.
Topics: Child; Child, Preschool; Electroencephalography; Epilepsy; Female; Humans; Infant; Pyridoxine; Vitam | 1966 |