Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis

Abstract

Objective We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited. Results After quality control, WES data from 47 patients (26 female), including 23 complete trios, were available for analysis. Compared with population control..