Article
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
The Lancet. Neurology - 1 Aug 2018
May Patrick, Girard Simon, Harrer Merle, Bobbili Dheeraj R, Schubert Julian, Wolking Stefan, Becker Felicitas, Lachance-Touchette Pamela, Meloche Caroline, Gravel Micheline, Niturad Cristina E, Knaus Julia, De Kovel Carolien, Toliat Mohamad, Polvi Anne, Iacomino Michele, Guerrero-López Rosa, Baulac Stéphanie, Marini Carla, Thiele Holger, Altmüller Janine, Jabbari Kamel, Ruppert Ann-Kathrin, Jurkowski Wiktor, Lal Dennis, Rusconi Raffaella, Cestèle Sandrine, Terragni Benedetta, Coombs Ian D, Reid Christopher A, Striano Pasquale, Caglayan Hande, Siren Auli, Everett Kate, Møller Rikke S, Hjalgrim Helle, Muhle Hiltrud, Helbig Ingo, Kunz Wolfram S, Weber Yvonne G, Weckhuysen Sarah, Jonghe Peter De, Sisodiya Sanjay M, Nabbout Rima, Franceschetti Silvana, Coppola Antonietta, Vari Maria S, Kasteleijn-Nolst Trenité Dorothée, Baykan Betul, Ozbek Ugur, Bebek Nerses, Klein Karl M, Rosenow Felix, Nguyen Dang K, Dubeau François, Carmant Lionel, Lortie Anne, Desbiens Richard, Clément Jean-François, Cieuta-Walti Cécile, Sills Graeme J, Auce Pauls, Francis Ben, Johnson Michael R, Marson Anthony G, Berghuis Bianca, Sander Josemir W, Avbersek Andreja, McCormack Mark, Cavalleri Gianpiero L, Delanty Norman, Depondt Chantal, Krenn Martin, Zimprich Fritz, Peter Sarah, Nikanorova Marina, Kraaij Robert, van Rooij Jeroen, Balling Rudi, Ikram M Arfan, Uitterlinden André G, Avanzini Giuliano, Schorge Stephanie, Petrou Steven, Mantegazza Massimo, Sander Thomas, LeGuern Eric, Serratosa Jose M, Koeleman Bobby P C, Palotie Aarno, Lehesjoki Anna-Elina, Nothnagel Michael, Nürnberg Peter, Maljevic Snezana, Zara Federico, Cossette Patrick, Krause Roland, Lerche Holger
Abstract excerpt
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. METHODS: For this exome-based case-control study, we used three different genetic generalised epilepsy case cohorts and...