Article
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
Neurology - 13 Sept 2016
Johannesen Katrine, Marini Carla, Pfeffer Siona, Møller Rikke S, Dorn Thomas, Niturad Cristina Elena, Gardella Elena, Weber Yvonne, Søndergård Marianne, Hjalgrim Helle, Nikanorova Mariana, Becker Felicitas, Larsen Line H G, Dahl Hans A, Maier Oliver, Mei Davide, Biskup Saskia, Klein Karl M, Reif Philipp S, Rosenow Felix, Elias Abdallah F, Hudson Cindy, Helbig Katherine L, Schubert-Bast Susanne, Scordo Maria R, Craiu Dana, Djémié Tania, Hoffman-Zacharska Dorota, Caglayan Hande, Helbig Ingo, Serratosa Jose, Striano Pasquale, De Jonghe Peter, Weckhuysen Sarah, Suls Arvid, Muru Kai, Talvik Inga, Talvik Tiina, Muhle Hiltrud, Borggraefe Ingo, Rost Imma, Guerrini Renzo, Lerche Holger, Lemke Johannes R, Rubboli Guido, Maljevic Snezana
Abstract excerpt
OBJECTIVE: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. METHODS: Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected. Functional analysis of 4 selected mutations was performed using the Xenopus laevis oocyte expression system. RESULTS: The study...
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