Article
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Human molecular genetics - 15 Dec 2012
Steffens Michael, Leu Costin, Ruppert Ann-Kathrin, Zara Federico, Striano Pasquale, Robbiano Angela, Capovilla Giuseppe, Tinuper Paolo, Gambardella Antonio, Bianchi Amedeo, La Neve Angela, Crichiutti Giovanni, de Kovel Carolien G F, Kasteleijn-Nolst Trenité Dorothée, de Haan Gerrit-Jan, Lindhout Dick, Gaus Verena, Schmitz Bettina, Janz Dieter, Weber Yvonne G, Becker Felicitas, Lerche Holger, Steinhoff Bernhard J, Kleefuß-Lie Ailing A, Kunz Wolfram S, Surges Rainer, Elger Christian E, Muhle Hiltrud, von Spiczak Sarah, Ostertag Philipp, Helbig Ingo, Stephani Ulrich, Møller Rikke S, Hjalgrim Helle, Dibbens Leanne M, Bellows Susannah, Oliver Karen, Mullen Saul, Scheffer Ingrid E, Berkovic Samuel F, Everett Kate V, Gardiner Mark R, Marini Carla, Guerrini Renzo, Lehesjoki Anna-Elina, Siren Auli, Guipponi Michel, Malafosse Alain, Thomas Pierre, Nabbout Rima, Baulac Stephanie, Leguern Eric, Guerrero Rosa, Serratosa Jose M, Reif Philipp S, Rosenow Felix, Mörzinger Martina, Feucht Martha, Zimprich Fritz, Kapser Claudia, Schankin Christoph J, Suls Arvid, Smets Katrin, De Jonghe Peter, Jordanova Albena, Caglayan Hande, Yapici Zuhal, Yalcin Destina A, Baykan Betul, Bebek Nerses, Ozbek Ugur, Gieger Christian, Wichmann Heinz-Erich, Balschun Tobias, Ellinghaus David, Franke Andre, Meesters Christian, Becker Tim, Wienker Thomas F, Hempelmann Anne, Schulz Herbert, Rüschendorf Franz, Leber Markus, Pauck Steffen M, Trucks Holger, Toliat Mohammad R, Nürnberg Peter, Avanzini Giuliano, Koeleman Bobby P C, Sander Thomas
Abstract excerpt
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European...
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