Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

May, Patrick; Girard, Simon; Harrer, Merle; Bobbili, Dheeraj; Schubert, Julian; Wolking, Stefan; Becker, Felicitas; Lachance-Touchette, Pamela; Meloche, Caroline; Gravel, Micheline; Niturad, Cristina; Knaus, Julia; De Kovel, Carolien; Toliat, Mohamad; Polvi, Anne; Iacomino, Michele; Guerrero-Lopez, Rosa; Baulac, Stephanie; Marini, Carla; Thiele, Holger; Altmueller, Janine; Jabbari, Kamel; Ruppert, Ann-Kathrin; Jurkowski, Wiktor; Lal, Dennis; Rusconi, Raffaella; Cestele, Sandrine; Terragni, Benedetta; Coombs, Ian; Reid, Christopher; Striano, Pasquale; Caglayan, Hande; Siren, Auli; Everett, Kate; Moller, Rikke; Hjalgrim, Helle; Muhle, Hiltrud; Helbig, Ingo; Kunz, Wolfram; Weber, Betül; Weckhuysen, Sarah; De Jonghe, Peter; Sisodiya, Sanjay; Nabbout, Rima; Franceschetti, Silvana; Coppola, Antonietta; Vari, Maria; Trenite, Dorothee; Baykan, Betül; ÖZBEK, Uğur; Bebek, Nerses; Klein, Karl; Rosenow, Felix; Nguyen, Dang; Dubeau, Francois; Carmant, Lionel; Lortie, Anne; Desbiens, Richard; Clement, Jean-Francois; Cieuta-Walti, Cecile; Sills, Graeme; Auce, Pauls; Francis, Ben; Johnson, Michael; Marson, Anthony; Berghuis, Bianca; Sander, Josemir; Avbersek, Andreja; McCormack, Mark; Cavalleri, Gianpiero; Delanty, Norman; Depondt, Chantal; Krenn, Martin; Zimprich, Fritz; Peter, Sarah; Nikanorova, Marina; Kraaij, Robert; van Rooij, Jeroen; Balling, Rudi; Ikram, M.; Uitterlinden, Andre; Avanzini, Giuliano; Schorge, Stephanie; Petrou, Steven; Mantegazza, Massimo; Sander, Thomas; LeGuern, Eric; Serratosa, Jose; Koeleman, Bobby; Palotie, Aarno; Lehesjoki, Anna-Elina; Nothnagel, Michael; Nuernberg, Peter; Maljevic, Snezana; Zara, Federico; Cossette, Patrick; Krause, Roland; Lerche, Holger

doi:10.1016/s1474-4422(18)30215-1

Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

May P., Girard S., Harrer M., Bobbili D. R., Schubert J., Wolking S., ...More

LANCET NEUROLOGY, vol.17, no.8, pp.699-708, 2018 (SCI-Expanded)

Publication Type: Article / Article
Volume: 17 Issue: 8
Publication Date: 2018
Doi Number: 10.1016/s1474-4422(18)30215-1
Journal Name: LANCET NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.699-708
Istanbul University Affiliated: Yes

Abstract

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.