Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
- May P.
- Girard S.
- Harrer M.
- Bobbili D. R.
- Schubert J.
- Wolking S.
- Becker F.
- Lachance-Touchette P.
- Meloche C.
- Gravel M.
- Niturad C. E.
- Knaus J.
- De Kovel C.
- Toliat M.
- Polvi A.
- Iacomino M.
- Guerrero-Lopez R.
- Baulac S.
- Marini C.
- Thiele H.
- Altmuller J.
- Jabbari K.
- Ruppert A. -K.
- Jurkowski W.
- Lal D.
- Rusconi R.
- Cestele S.
- Terragni B.
- Coombs I. D.
- Reid C. A.
- Striano P.
- Caglayan H.
- Siren A.
- Everett K.
- Moller R. S.
- Hjalgrim H.
- Muhle H.
- Helbig I.
- Kunz W. S.
- Weber Y. G.
- Weckhuysen S.
- Jonghe P. D.
- Sisodiya S. M.
- Nabbout R.
- Franceschetti S.
- Coppola A.
- Vari M. S.
- Kasteleijn-Nolst Trenite D.
- Baykan B.
- Ozbek U.
- Bebek N.
- Klein K. M.
- Rosenow F.
- Nguyen D. K.
- Dubeau F.
- Carmant L.
- Lortie A.
- Desbiens R.
- Clement J. -F.
- Cieuta-Walti C.
- Sills G. J.
- Auce P.
- Francis B.
- Johnson M. R.
- Marson A. G.
- Berghuis B.
- Sander J. W.
- Avbersek A.
- McCormack M.
- Cavalleri G. L.
- Delanty N.
- Depondt C.
- Krenn M.
- Zimprich F.
- Peter S.
- Nikanorova M.
- Kraaij R.
- van Rooij J.
- Balling R.
- Ikram M. A.
- Uitterlinden A. G.
- Avanzini G.
- Schorge S.
- Petrou S.
- Mantegazza M.
- Sander T.
- LeGuern E.
- Serratosa J. M.
- Koeleman B. P. C.
- Palotie A.
- Lehesjoki A. -E.
- Nothnagel M.
- Nurnberg P.
- Maljevic S.
- Zara F.
- Cossette P.
- Krause R.
- Lerche H.
- De Jonghe P.
- Arfan Ikram M.
- Ferlazzo E.
- di Bonaventura C.
- La Neve A.
- Tinuper P.
- Bisulli F.
- Vignoli A.
- Capovilla G.
- Crichiutti G.
- Gambardella A.
- Belcastro V.
- Bianchi A.
- Yalcin D.
- Dizdarer G.
- Arslan K.
- Yapici Z.
- Kuscu D.
- Leu C.
- Heggeli K.
- Willis J.
- Langley S. R.
- Jorgensen A.
- Srivastava P.
- Rau S.
- Hengsbach C.
- Sonsma A. C. M.
DOIAbstract
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 three independent control cohorts, all of European descent. Cases included in the study were clinically evaluated for genetic generalised epilepsy. Whole-exome sequencing was done for the discovery case cohort, a validation case cohort, and two independent control cohorts. The replication case cohort underwent targeted next-generation ...
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