15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Ingo Helbig, Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien De Kovel, Carl Baker, Sarah Von Spiczak, Katherine L. Kron, Ines Steinich, Ailing A. Kleefuß-Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl M. Klein, Philipp S. Reif, Felix Rosenow, Yvonne WeberHolger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit Jan De Haan, Rikke S. Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian E. Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P C Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E. Eichler, Thomas Sander

Research output: Contribution to journalArticle

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 × 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.

Original languageEnglish
Pages (from-to)160-162
Number of pages3
JournalNature Genetics
Volume41
Issue number2
DOIs
Publication statusPublished - Feb 2009

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ASJC Scopus subject areas

  • Genetics

Cite this

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., De Kovel, C., Baker, C., Von Spiczak, S., Kron, K. L., Steinich, I., Kleefuß-Lie, A. A., Leu, C., Gaus, V., Schmitz, B., Klein, K. M., Reif, P. S., Rosenow, F., ... Sander, T. (2009). 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics, 41(2), 160-162. https://doi.org/10.1038/ng.292