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acetazolamide and Genetic Predisposition

acetazolamide has been researched along with Genetic Predisposition in 11 studies

Acetazolamide: One of the CARBONIC ANHYDRASE INHIBITORS that is sometimes effective against absence seizures. It is sometimes useful also as an adjunct in the treatment of tonic-clonic, myoclonic, and atonic seizures, particularly in women whose seizures occur or are exacerbated at specific times in the menstrual cycle. However, its usefulness is transient often because of rapid development of tolerance. Its antiepileptic effect may be due to its inhibitory effect on brain carbonic anhydrase, which leads to an increased transneuronal chloride gradient, increased chloride current, and increased inhibition. (From Smith and Reynard, Textbook of Pharmacology, 1991, p337)

Research Excerpts

ExcerptRelevanceReference
"Acetazolamide has been the most commonly used treatment for hypokalemic periodic paralysis since 1968."7.77Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. ( Davis, MB; Griggs, RC; Hanna, MG; Haworth, A; Ke, Q; Matthews, E; Portaro, S; Sud, R, 2011)
"A continuing survey of the genetic variability of different mouse strains to acetazolamide teratogenesis demonstrated the WB/ReJ strain expresses a high frequency of induced subcutaneous edema in day 15 fetuses."7.68Genetically determined transient edema found in the WB/ReJ mouse strain in a teratogenic survey with acetazolamide. ( Biddle, FG, 1990)
"Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse mucocutaneous reactions to certain drugs."5.42Clinical features of and genetic predisposition to drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in a single Korean tertiary institution patients-investigating the relation between the HLA -B*4403 allele and lamotrigine. ( Kim, SR; Koh, BS; Lee, JH; Leem, DW; Moon, IJ; Park, HJ; Park, JW; Park, KH, 2015)
"Acetazolamide has been the most commonly used treatment for hypokalemic periodic paralysis since 1968."3.77Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. ( Davis, MB; Griggs, RC; Hanna, MG; Haworth, A; Ke, Q; Matthews, E; Portaro, S; Sud, R, 2011)
"A continuing survey of the genetic variability of different mouse strains to acetazolamide teratogenesis demonstrated the WB/ReJ strain expresses a high frequency of induced subcutaneous edema in day 15 fetuses."3.68Genetically determined transient edema found in the WB/ReJ mouse strain in a teratogenic survey with acetazolamide. ( Biddle, FG, 1990)
"Meniere's disease is a clinical syndrome of uncertain aetiology but it is a widespread belief that it is related to endolymphatic hydrops."2.43Hypothesis: could Meniere's disease be a channelopathy? ( Gates, P, 2005)
"Acetazolamide was administered to 6 dogs, and 4 dogs experienced a decrease in episode frequency."1.56Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs. ( Bhatti, SFM; Broeckx, BJG; Charalambous, M; Cornelis, I; Polidoro, D; Santens, P; Van Ham, L, 2020)
"Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse mucocutaneous reactions to certain drugs."1.42Clinical features of and genetic predisposition to drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in a single Korean tertiary institution patients-investigating the relation between the HLA -B*4403 allele and lamotrigine. ( Kim, SR; Koh, BS; Lee, JH; Leem, DW; Moon, IJ; Park, HJ; Park, JW; Park, KH, 2015)
"We report a child with congenital ataxia, abnormal eye movements and developmental delay who presented severe attacks of hemiplegic migraine triggered by minor head traumas and associated with hemispheric swelling and seizures."1.40Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. ( Al-Qusairi, L; Bonafé, L; García Segarra, N; Gautschi, I; Kallay Zetchi, C; Maeder, P; Mittaz-Crettol, L; Roulet-Perez, E; Schild, L; Van Bemmelen, MX, 2014)

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (9.09)18.2507
2000's3 (27.27)29.6817
2010's5 (45.45)24.3611
2020's2 (18.18)2.80

Authors

AuthorsStudies
Ketz, J1
Saxena, V1
Arregui, S1
Jackson, A1
Schwartz, GJ1
Yagisawa, T1
Fairchild, RL1
Hains, DS1
Schwaderer, AL1
Polidoro, D1
Van Ham, L1
Santens, P1
Cornelis, I1
Charalambous, M1
Broeckx, BJG1
Bhatti, SFM1
García Segarra, N1
Gautschi, I1
Mittaz-Crettol, L1
Kallay Zetchi, C1
Al-Qusairi, L1
Van Bemmelen, MX1
Maeder, P1
Bonafé, L1
Schild, L1
Roulet-Perez, E1
Rodà, D1
Fons-Estupiña, MC1
Vidal-Santacana, M1
Park, HJ1
Kim, SR1
Leem, DW1
Moon, IJ1
Koh, BS1
Park, KH1
Park, JW1
Lee, JH1
Tacik, P1
Guthrie, KJ1
Strongosky, AJ1
Broderick, DF1
Riegert-Johnson, DL1
Tang, S1
El-Khechen, D1
Parker, AS1
Ross, OA1
Wszolek, ZK1
Suyama, K1
Yoshida, K1
Hayashi, K1
Takahata, H1
Yonekura, M1
Nagata, I1
Matthews, E1
Portaro, S1
Ke, Q1
Sud, R1
Haworth, A1
Davis, MB1
Griggs, RC1
Hanna, MG1
Gates, P1
Cricchi, F1
Di Lorenzo, C1
Grieco, GS1
Rengo, C1
Cardinale, A1
Racaniello, M1
Santorelli, FM1
Nappi, G1
Pierelli, F1
Casali, C1
Biddle, FG1

Reviews

1 review available for acetazolamide and Genetic Predisposition

ArticleYear
Hypothesis: could Meniere's disease be a channelopathy?
    Internal medicine journal, 2005, Volume: 35, Issue:8

    Topics: Acetazolamide; Adult; Aged; Disease Progression; Endolymphatic Hydrops; Female; Genetic Predispositi

2005

Other Studies

10 other studies available for acetazolamide and Genetic Predisposition

ArticleYear
Developmental loss, but not pharmacological suppression, of renal carbonic anhydrase 2 results in pyelonephritis susceptibility.
    American journal of physiology. Renal physiology, 2020, 06-01, Volume: 318, Issue:6

    Topics: Acetazolamide; Acidosis; Animals; Carbonic Anhydrase II; Carbonic Anhydrase Inhibitors; Disease Mode

2020
Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs.
    Journal of veterinary internal medicine, 2020, Volume: 34, Issue:4

    Topics: Acetazolamide; Animals; Carbonic Anhydrase Inhibitors; Chorea; Diet, Gluten-Free; Dog Diseases; Dogs

2020
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    Journal of the neurological sciences, 2014, Jul-15, Volume: 342, Issue:1-2

    Topics: Acetazolamide; Adolescent; Animals; Ataxia; Brain Edema; Calcium Channels; Cerebellar Ataxia; Child;

2014
[Familial idiopathic intracranial hypertension: two paediatric case reports].
    Revista de neurologia, 2014, Jul-16, Volume: 59, Issue:2

    Topics: Acetazolamide; Adolescent; Carbonic Anhydrase Inhibitors; Child; Female; Genetic Predisposition to D

2014
Clinical features of and genetic predisposition to drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in a single Korean tertiary institution patients-investigating the relation between the HLA -B*4403 allele and lamotrigine.
    European journal of clinical pharmacology, 2015, Volume: 71, Issue:1

    Topics: Acetaminophen; Acetazolamide; Adult; Aged; Aged, 80 and over; Alleles; Allopurinol; Anti-Bacterial A

2015
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
    Mayo Clinic proceedings, 2015, Volume: 90, Issue:3

    Topics: Acetazolamide; Anticonvulsants; Ataxia; Base Sequence; Electroencephalography; Electromyography; Exo

2015
Coexistence of Chiari 2 malformation and moyamoya syndrome in a 17-year-old girl.
    Neurologia medico-chirurgica, 2009, Volume: 49, Issue:1

    Topics: Acetazolamide; Adolescent; Agenesis of Corpus Callosum; Anastomosis, Surgical; Arnold-Chiari Malform

2009
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
    Neurology, 2011, Nov-29, Volume: 77, Issue:22

    Topics: Acetazolamide; Carbonic Anhydrase Inhibitors; Cohort Studies; Female; Genetic Predisposition to Dise

2011
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
    Journal of the neurological sciences, 2007, Mar-15, Volume: 254, Issue:1-2

    Topics: Acetazolamide; Age of Onset; Amino Acid Substitution; Calcium Channels; Carbonic Anhydrase Inhibitor

2007
Genetically determined transient edema found in the WB/ReJ mouse strain in a teratogenic survey with acetazolamide.
    Teratology, 1990, Volume: 42, Issue:6

    Topics: Acetazolamide; Animals; Crosses, Genetic; Edema; Female; Fetal Diseases; Genetic Predisposition to D

1990