Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

ABSTRACT:

Objective

We aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE.

Methods

We performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18 834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 945 individuals with familial GGE (vs. 8626 controls), and finally in 1005 individuals wi

SUBMITTER: Koko M 

PROVIDER: S-EPMC8891088 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature