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. 2009 Feb;41(2):160-2.
doi: 10.1038/ng.292. Epub 2009 Jan 11.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Ingo Helbig  1 , 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 Weber, Holger 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
Affiliations

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Ingo Helbig et al. Nat Genet. 2009 Feb.

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.

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Figure 1
Figure 1
Confirmation of 15q13.3 microdeletions using custom array CGH. High-resolution oligonucleotide array mapping of the 15q12–q13.3 region in 10 of 12 IGE probands with 15q13.3 microdeletions. Probes with log2 ratios above or below a threshold of 1.5 s.d. are colored green (duplications) or red (deletions). Hashed lines indicate the breakpoint regions BP3–BP5.
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