Page last updated: 2024-10-20

pteridines and Seizures

pteridines has been researched along with Seizures in 16 studies

Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder.

Research Excerpts

ExcerptRelevanceReference
" The key findings leading to diagnosis were neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hyperexcitability, low blood uric acid levels, and neuroimaging findings."3.71Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. ( Coskun, T; Haliloglu, G; Saatci, I; Topcu, M, 2001)
"We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities."3.68Molybdenum cofactor deficiency. ( Arnold, GL; Goodman, SI; Greene, CL; Stout, JP, 1993)
"At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy."1.36Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. ( Cağlayan, AO; Dundar, M; Engelen, J; Ghesquiere, S; Gümüş, H; Ichida, K; Kondolot, M; Kumandaş, S; Per, H; Poyrazoğlu, G, 2010)
"We present here three cases (two with seizure disorders, one with a central nervous system lymphoma) who presented with unusually elevated CSF signals on MRSI."1.32Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imaging. ( Barker, PB; Braverman, N; Chacko, VP; Degaonkar, M; Fatemi, A; Horská, A; Lawrie, WT; McMahon, M; Nagae-Poetscher, LM; Pomper, MG, 2004)
"A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency."1.27Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. ( Duran, M; Endres, W; Günther, R; Ibel, H; Shin, YS; Wadman, SK, 1988)

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19902 (12.50)18.7374
1990's6 (37.50)18.2507
2000's4 (25.00)29.6817
2010's3 (18.75)24.3611
2020's1 (6.25)2.80

Authors

AuthorsStudies
Spiegel, R1
Schwahn, BC1
Squires, L1
Confer, N1
Sass, JO1
Gunduz, A1
Araujo Rodrigues Funayama, C1
Korkmaz, B1
Dantas Pinto, KG1
Tuysuz, B1
Yanasse Dos Santos, L1
Taskiran, E1
de Fátima Turcato, M1
Lam, CW1
Reiss, J1
Walter, M1
Yalcinkaya, C1
Camelo Junior, JS1
Gümüş, H1
Ghesquiere, S1
Per, H1
Kondolot, M1
Ichida, K1
Poyrazoğlu, G1
Kumandaş, S1
Engelen, J1
Dundar, M1
Cağlayan, AO1
Förstera, B1
Belaidi, AA1
Jüttner, R1
Bernert, C1
Tsokos, M1
Lehmann, TN1
Horn, P1
Dehnicke, C1
Schwarz, G1
Meier, JC1
Nagae-Poetscher, LM1
McMahon, M1
Braverman, N1
Lawrie, WT1
Fatemi, A1
Degaonkar, M1
Horská, A1
Pomper, MG1
Chacko, VP1
Barker, PB1
Seidahmed, MZ1
Alyamani, EA1
Rashed, MS1
Saadallah, AA1
Abdelbasit, OB1
Shaheed, MM1
Rasheed, A1
Hamid, FA1
Sabry, MA1
Arnold, GL1
Greene, CL1
Stout, JP1
Goodman, SI1
Sumi, S1
Wada, Y1
Koch, H1
Waring, WS1
Maxwell, S1
Simmonds, HA1
Hoffmann, GF1
Pérignon, JL1
Micheli, V1
van Gennip, AH1
Carragher, FM1
Kirk, JM1
Steer, C1
Allen, J1
Dorche, C1
Kavukçu, S1
Soylu, A1
Sahin, B1
Türkmen, M1
Aydin, A1
Dirik, E1
Topcu, M1
Coskun, T1
Haliloglu, G1
Saatci, I1
Endres, W1
Shin, YS1
Günther, R1
Ibel, H1
Duran, M1
Wadman, SK1
Matsuo, M1
Maeda, E1
Nakamura, H1
Saiki, K1

Reviews

1 review available for pteridines and Seizures

ArticleYear
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
    Nihon rinsho. Japanese journal of clinical medicine, 1996, Volume: 54, Issue:12

    Topics: Central Nervous System Diseases; Coenzymes; Diagnosis, Differential; Diet Therapy; Humans; Infant, N

1996

Other Studies

15 other studies available for pteridines and Seizures

ArticleYear
Molybdenum cofactor deficiency: A natural history.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3

    Topics: Coenzymes; Humans; Infant, Newborn; Metal Metabolism, Inborn Errors; Metalloproteins; Prospective St

2022
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
    Brain & development, 2010, Volume: 32, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Brazil; Coenzymes; Diagnosis, Differential; DNA Mutational Ana

2010
Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
    Developmental medicine and child neurology, 2010, Volume: 52, Issue:9

    Topics: Carbon-Carbon Lyases; Carrier Proteins; Coenzymes; Developmental Disabilities; Feeding Behavior; Fem

2010
Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy.
    Brain : a journal of neurology, 2010, Volume: 133, Issue:Pt 12

    Topics: Alternative Splicing; Animals; Blotting, Western; Carrier Proteins; Cells, Cultured; Coenzymes; DNA;

2010
Metabolites in ventricular cerebrospinal fluid detected by proton magnetic resonance spectroscopic imaging.
    Journal of magnetic resonance imaging : JMRI, 2004, Volume: 20, Issue:3

    Topics: Adult; Cerebral Ventricles; Cerebrospinal Fluid; Child; Coenzymes; Fatal Outcome; Female; Humans; In

2004
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
    American journal of medical genetics. Part A, 2005, Jul-15, Volume: 136, Issue:2

    Topics: Abnormalities, Multiple; Arabs; Base Sequence; Binding Sites; Coenzymes; Consanguinity; Dimerization

2005
Molybdenum cofactor deficiency.
    The Journal of pediatrics, 1993, Volume: 123, Issue:4

    Topics: Coenzymes; Female; Genes, Recessive; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloprot

1993
Dipsticks and convulsions.
    Lancet (London, England), 1998, Dec-05, Volume: 352, Issue:9143

    Topics: Coenzymes; Diagnostic Errors; Humans; Infant, Newborn; Male; Metalloproteins; Molybdenum Cofactors;

1998
Diagnosis of molybdenum cofactor deficiency.
    Lancet (London, England), 1999, Feb-20, Volume: 353, Issue:9153

    Topics: Antioxidants; Coenzymes; Diagnosis, Differential; Free Radical Scavengers; Free Radicals; Humans; Hy

1999
Diagnosis of molybdenum cofactor deficiency.
    Lancet (London, England), 1999, Feb-20, Volume: 353, Issue:9153

    Topics: Child, Preschool; Coenzymes; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Metalloprotei

1999
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:7

    Topics: Asphyxia; Coenzymes; False Negative Reactions; Fatal Outcome; Female; Humans; Infant, Newborn; Metal

1999
Clinical quiz. Molybdenum cofactor deficiency.
    Pediatric nephrology (Berlin, Germany), 2000, Volume: 14, Issue:12

    Topics: Coenzymes; Encephalomalacia; Hematuria; Humans; Infant; Male; Metabolism, Inborn Errors; Metalloprot

2000
Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy.
    Journal of child neurology, 2001, Volume: 16, Issue:4

    Topics: Coenzymes; Diagnosis, Differential; Female; Humans; Hypoxia-Ischemia, Brain; Infant; Infant, Newborn

2001
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.
    European journal of pediatrics, 1988, Volume: 148, Issue:3

    Topics: Abnormalities, Multiple; Coenzymes; Humans; Infant; Ketone Oxidoreductases; Male; Metalloproteins; M

1988
Molybdenum cofactor deficiency: another inborn error of metabolism with neonatal onset.
    Pediatrics, 1988, Volume: 82, Issue:3 Pt 2

    Topics: Coenzymes; Humans; Infant, Newborn; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors

1988