title: Association between SCN1A polymorphism and carbamazepine-resistant epilepsy.
abstract: OBJECTIVE
  To establish whether the SCN1A IVS5-91 G > A polymorphism of the SCN1A gene, which encodes the neuronal sodium channel alpha subunit, affects responsiveness to the antiepileptic drugs (AEDS) carbamazepine and/or phenytoin.
  
  
  METHODS
  SCN1A IVS5-91 G > A polymorphism was genotyped in 228 Japanese epileptic patients treated with AEDs. The association between AED responsiveness and the polymorphism was estimated by logistic regression analysis, adjusting for clinical factors affecting the outcome of AED therapy.
  
  
  RESULTS
  The frequency of the AA genotype was significantly higher in carbamazepine-resistant patients (odds ratio, 2.7; 95% confidence interval (CI), 1.1, 7.1) and was insignificantly higher in AED-resistant patients.
  
  
  CONCLUSIONS
  This is the first report demonstrating an association between the SCN1A polymorphism and carbamazepine-resistant epilepsy.
authors.affiliation: Division of Pharmacology and Therapeutics, Graduate School of Medical and Pharmaceutical Science, Kumamoto University, Kumamoto, Japan.
authors.forename: Tomohide
authors.initials: T
authors.lastname: Abe
authors.forename: Takayuki
authors.initials: T
authors.lastname: Seo
authors.forename: Takateru
authors.initials: T
authors.lastname: Ishitsu
authors.forename: Takehiro
authors.initials: T
authors.lastname: Nakagawa
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hori
authors.forename: Kazuko
authors.initials: K
authors.lastname: Nakagawa
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000008:administration & dosage*; D002220:Carbamazepine / Q000008:administration & dosage*; D004305:Dose-Response Relationship, Drug; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010672:Phenytoin / Q000008:administration & dosage*; D011110:Polymorphism, Genetic / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D002220:Carbamazepine; D010672:Phenytoin