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. 2008 Aug;66(2):304-7.
doi: 10.1111/j.1365-2125.2008.03203.x. Epub 2008 Apr 11.

Association between SCN1A polymorphism and carbamazepine-resistant epilepsy

Tomohide Abe  1 , Takayuki Seo, Takateru Ishitsu, Takehiro Nakagawa, Masaharu Hori, Kazuko Nakagawa
Affiliations

Association between SCN1A polymorphism and carbamazepine-resistant epilepsy

Tomohide Abe et al. Br J Clin Pharmacol. 2008 Aug.

Abstract

Aims: 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.

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