Ontology highlight
ABSTRACT:
SUBMITTER: Takata A
PROVIDER: S-EPMC6555845 | biostudies-other | 2019 Jun
REPOSITORIES: biostudies-other
Nature communications 20190607 1
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique to an individual are significantly overrepresented in EE/DEE, both in known EE/DEE genes and the other non-EE/DEE genes. Importantly, enrichment of dURVs in non-EE/DEE genes ...[more]