Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.

ABSTRACT:

Objective

Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug-resistant epilepsy remains unchanged. In this study, we aimed to investigate the role of rare genetic variants in ASM resistance.

Methods

We performed exome sequencing of 1,128 individuals with non-familial non-acquired focal epilepsy (NAFE) (762 non-responders, 366 responders) and were provided with 1,734 healthy controls. We undertook replication in a cohort of 350 individuals with NAFE (165 non-responders, 185 responders). We performed gene-based and gene-set-based kernel association tests to investigate potential enrichment of rare variants in relation to drug response st

SUBMITTER: Wolking S 

PROVIDER: S-EPMC8283173 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature