Mutations in GABRB3 : from febrile seizures to epileptic encephalopathies

Moller, Rs; Wuttke, Tv; Helbig, I; Marini, C; Johannesen, Km; Brilstra, Eh; Vaher, U; Borggraefe, I; Talvik, T; Kluger, G; Francois, Ll; Lesca, G; De Bellescize, J; Blichfeldt, S; Chatron, N; Jacobs, J; Swinkels, M; Betzler, C; Syrbe, S; Nikanorova, M; Myers, Ct; Larsen, Lh; Vejzovic, S; Pendziwiat, M; Von Spiczak, S; Hopkins, S; Dubbs, H; Mang, Y; Mukhin, K; Holthausen, H; Van Gassen Kl,; Dahl, Ha; Tommerup, N; Mefford, Hc; Rubboli, G; Guerrini, R; Lemke, Jr; Lerche, H; Muhle, H; Maljevic, S.

To examine the role of mutations in GABRB3 encoding the b3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

Mutations in GABRB3 : from febrile seizures to epileptic encephalopathies / Moller, Rs; Wuttke, Tv; Helbig, I; Marini, C; Johannesen, Km; Brilstra, Eh; Vaher, U; Borggraefe, I; Talvik, T; Kluger, G; Francois, Ll; Lesca, G; De Bellescize, J; Blichfeldt, S; Chatron, N; Jacobs, J; Swinkels, M; Betzler, C; Syrbe, S; Nikanorova, M; Myers, Ct; Larsen, Lh; Vejzovic, S; Pendziwiat, M; von Spiczak, S; Hopkins, S; Dubbs, H; Mang, Y; Mukhin, K; Holthausen, H; Van Gassen KL, ; Dahl, Ha; Tommerup, N; Mefford, Hc; Rubboli, G; Guerrini, R; Lemke, Jr; Lerche, H; Muhle, H; Maljevic, S.. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - (2017), pp. 88-483.