Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.

ABSTRACT:

Objective

To determine whether common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short-term seizure outcome in childhood absence epilepsy (CAE).

Methods

Four hundred forty-six CAE children in a randomized double-blind trial of ethosuximide, lamotrigine, and valproate had short-term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥ 15%) in 4 genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of 1 variant on T-type calcium channel responsiveness to ethosuximide.

Results

Eighty percent (357 of 446) of subjects had informative short-term seizure status (242 seizure free, 115 not seizure free). In ethosuximide subjects, 2 po

SUBMITTER: Glauser TA 

PROVIDER: S-EPMC6171340 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature