Ontology highlight
ABSTRACT:
SUBMITTER: Bobbili DR
PROVIDER: S-EPMC5839048 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20180122 2
Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment d ...[more]