Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Fenja MarkusChloé AngeliniAurélien TrimouilleGabrielle RudolfGaetan LescaCyril GoizetEulalie LasseauxBenoit ArveilerMarjon van SlegtenhorstAlice S BrooksRami Abou JamraGeorg-Christoph KorenkeJohn NeidhardtMarta Owczarek-LipskaPublished in: Molecular genetics & genomic medicine (2020)
Our clinical and molecular genetic findings suggest that GABRE is a likely candidate gene for epilepsy. Nevertheless, functional studies are necessary to better understand pathogenicity of the GABRE-mutations and their associations with epileptic phenotypes.