Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

ConclusionOur clinical and molecular genetic findings suggest thatGABRE is a likely candidate gene for epilepsy. Nevertheless, functional studies are necessary to better understand pathogenicity of theGABRE‐mutations and their associations with epileptic phenotypes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research