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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Official URL:https://doi.org/10.1038/ng.292
PubMed:View item in PubMed
Creators Name:Helbig, I. and Mefford, H.C. and Sharp, A.J. and Guipponi, M. and Fichera, M. and Franke, A. and Muhle, H. and de Kovel, C. and Baker, C. and von Spiczak, S. and Kron, K.L. and Steinich, I. and Kleefuss-Lie, A.A. and Leu, C. and Gaus, V. and Schmitz, B. and Klein, K.M. and Reif, P.S. and Rosenow, F. and Weber, Y. and Lerche, H. and Zimprich, F. and Urak, L. and Fuchs, K. and Feucht, M. and Genton, P. and Thomas, P. and Visscher, F. and de Haan, G.J. and Moller, R.S. and Hjalgrim, H. and Luciano, D. and Wittig, M. and Nothnagel, M. and Elger, C.E. and Nuernberg, P. and Romano, C. and Malafosse, A. and Koeleman, B.P.C. and Lindhout, D. and Stephani, U. and Schreiber, S. and Eichler, E.E. and Sander, T.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Volume:41
Number:2
Page Range:160-162
Date:February 2009
Keywords:Case-Control Studies, Chromosome Deletion, Pair 15 Human Chromosomes, Comparative Genomic Hybridization, Generalized Epilepsy, Genetic Predisposition to Disease, Nicotinic Receptors, Risk Factors
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.
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Item Type:Article

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