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: Fenja Markus,
Chlo é Angelini,
Aurelien Trimouille,
Gabrielle Rudolf,
Gaetan Lesca,
Cyril Goizet,
Eulalie Lasseaux,
Benoit Arveiler,
Marjon Slegtenhorst,
Alice S. Brooks,
Rami Abou Jamra,
Georg‐Christoph Korenke,
John Neidhardt,
Marta Owcz Tags: ORIGINAL ARTICLE Source Type: research