Article
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Brain : a journal of neurology - 1 Jan 2010
de Kovel Carolien G F, Trucks Holger, Helbig Ingo, Mefford Heather C, Baker Carl, Leu Costin, Kluck Christian, Muhle Hiltrud, von Spiczak Sarah, Ostertag Philipp, Obermeier Tanja, Kleefuss-Lie Ailing A, Hallmann Kerstin, Steffens Michael, Gaus Verena, Klein Karl M, Hamer Hajo M, Rosenow Felix, Brilstra Eva H, Trenité Dorothée Kasteleijn-Nolst, Swinkels Marielle E M, Weber Yvonne G, Unterberger Iris, Zimprich Fritz, Urak Lydia, Feucht Martha, Fuchs Karoline, Møller Rikke S, Hjalgrim Helle, De Jonghe Peter, Suls Arvid, Rückert Ina-Maria, Wichmann Heinz-Erich, Franke Andre, Schreiber Stefan, Nürnberg Peter, Elger Christian E, Lerche Holger, Stephani Ulrich, Koeleman Bobby P C, Lindhout Dick, Eichler Evan E, Sander Thomas
Abstract excerpt
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism,...
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