Article
Investigation of GRIN2A in common epilepsy phenotypes.
Epilepsy research - 1 Sept 2015
Lal Dennis, Steinbrücker Sandra, Schubert Julian, Sander Thomas, Becker Felicitas, Weber Yvonne, Lerche Holger, Thiele Holger, Krause Roland, Lehesjoki Anna-Elina, Nürnberg Peter, Palotie Aarno, Neubauer Bernd A, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Becker Albert J, Schoch Susanne, Hansen Jörg, Dorn Thomas, Hohl Christin, Lüscher Nicole, von Spiczak Sarah, Lemke Johannes R
Abstract excerpt
Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE)...
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