Association between SCN1A polymorphism and carbamazepine-resistant epilepsy.
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.
Abe
Tomohide
T
Division of Pharmacology and Therapeutics, Graduate School of Medical and Pharmaceutical Science, Kumamoto University, Kumamoto, Japan.
Seo
Takayuki
T
Ishitsu
Takateru
T
Nakagawa
Takehiro
T
Hori
Masaharu
M
Nakagawa
Kazuko
K
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
D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D002220:Carbamazepine; D010672:Phenytoin