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

Tarih
2018
Yazar
Rusconi, Raffaella
Delanty, Norman
Depondt, Chantal
Krenn, Martin
Zimprich, Fritz
Peter, Sarah
Nikanorova, Marina
Kraaij, Robert
van Rooij, Jeroen
Balling, Rudi
Ikram, M. Arfan
Uitterlinden, Andre G.
Avanzini, Giuliano
Schorge, Stephanie
Petrou, Steven
Mantegazza, Massimo
Sander, Thomas
LeGuern, Eric
Serratosa, Jose M.
Koeleman, Bobby P. C.
Palotie, Aarno
Nuernberg, Peter
Maljevic, Snezana
Zara, Federico
Cossette, Patrick
Krause, Roland
Lerche, Holger
Weber, Yvonne G.
Baykan, Betul
Bebek, Nerses
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-Lopez, Rosa
Baulac, Stephanie
Marini, Carla
Thiele, Holger
Altmueller, Janine
Jabbari, Kamel
Ruppert, Ann-Kathrin
Jurkowski, Wiktor
Lal, Dennis
Cestele, Sandrine
Terragni, Benedetta
Coombs, Ian D.
Reid, Christopher A.
Striano, Pasquale
Caglayan, Hande
Siren, Auli
Everett, Kate
Moller, Rikke S.
Hjalgrim, Helle
Muhle, Hiltrud
Helbig, Ingo
Kunz, Wolfram S.
Weckhuysen, Sarah
De Jonghe, Peter
Sisodiya, Sanjay M.
Nabbout, Rima
Franceschetti, Silvana
Coppola, Antonietta
Vari, Maria S.
Trenite, Dorothee Kasteleijn-Nolst
Lehesjoki, Anna-Elina
Nothnagel, Michael
ÖZBEK, Uğur
Klein, Karl M.
Rosenow, Felix
Nguyen, Dang K.
Dubeau, Francois
Carmant, Lionel
Lortie, Anne
Desbiens, Richard
Clement, Jean-Francois
Cieuta-Walti, Cecile
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.
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/129642
https://doi.org/10.1016/s1474-4422(18)30215-1
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