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Nature Research, Nature Genetics, 2(41), p. 160-162, 2009

DOI: 10.1038/ng.292

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Journal article published in 2009 by Ingo Helbig, Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel ORCID, Carl Baker, Sarah von Spiczak, Katherine L. Kron, Ines Steinich, Verena Gaus, Costin Leu ORCID, Bettina Schmitz and other authors.
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This paper is available in a repository.

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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.