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., ...Daha Fazla

LANCET NEUROLOGY, cilt.17, sa.8, ss.699-708, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 17 Sayı: 8
Basım Tarihi: 2018
Doi Numarası: 10.1016/s1474-4422(18)30215-1
Dergi Adı: LANCET NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.699-708
İstanbul Üniversitesi Adresli: Evet

Özet

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.