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- Title
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
- Authors
Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J; Guipponi, Michel; Fichera, Marco; Franke, Andre; Muhle, Hiltrud; de Kovel, Carolien; Baker, Carl; von Spiczak, Sarah; Kron, Katherine L; Steinich, Ines; Kleefuss-Lie, Ailing A; Leu, Costin; Gaus, Verena; Schmitz, Bettina; Klein, Karl M; Reif, Philipp S; Rosenow, Felix; Weber, Yvonne; Lerche, Holger; Zimprich, Fritz; Urak, Lydia; Fuchs, Karoline; Feucht, Martha; Genton, Pierre; Thomas, Pierre; Visscher, Frank; de Haan, Gerrit-Jan; Møller, Rikke S; Hjalgrim, Helle; Luciano, Daniela; Wittig, Michael; Nothnagel, Michael; Elger, Christian E; Nürnberg, Peter; Romano, Corrado; Malafosse, Alain; Koeleman, Bobby P C; Lindhout, Dick; Stephani, Ulrich; Schreiber, Stefan; Eichler, Evan E; Sander, Thomas
- Abstract
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.
- Publication
Nature genetics, 2009, Vol 41, Issue 2, p160
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.292