15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Journal: Nature Genetics
Published:
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.
Authors
Ingo Helbig, Heather Mefford, Andrew Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien De Kovel, Carl Baker, Sarah Von Spiczak, Katherine Kron, Ines Steinich, Ailing Kleefuss Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl Klein, Philipp Reif, Felix Rosenow, Yvonne Weber, Holger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit-jan De Haan, Rikke Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan Eichler, Thomas Sander
Relevant Conditions