Herein, we investigated the association between Carbamazepine-resistant (CBZ-resistant) epilepsy and EPHX1 methylation in a northern Han Chinese population, and conducted an analysis of clinical risk factors for CBZ-resistant epilepsy.
EPHX1 c.337T>C polymorphisms may contribute to the risk of severe CBZ-SJS/TEN by increasing the concentration of a CBZ metabolite, CBZ-10,11-epoxide, in patients with epilepsy.
Nineteen children had CFA.In a logistic regression model adjusted for history of phenytoin use during the first trimester and maternal epilepsy (N=157 pregnancies), the maternal EPHX1 113 H [per rare allele odds ratio (OR): 2.43, 95% confidence interval (CI): 1.16-5.10, P=0.02] and 139 R (per rare allele OR: 2.33, 95% CI: 1.09-5.00, P=0.03) alleles were associated with CFAs in the child.