15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

• Published in: Nature genetics Vol. 41; no. 2; pp. 160 - 162
• Main Authors: Schmitz, Bettina, Zimprich, Fritz, Nothnagel, Michael, de Haan, Gerrit-Jan, Mefford, Heather C, Weber, Yvonne, Hjalgrim, Helle, Rosenow, Felix, Baker, Carl, Franke, Andre, Wittig, Michael, Steinich, Ines, Lerche, Holger, Eichler, Evan E, Urak, Lydia, Kleefuß-Lie, Ailing A, Romano, Corrado, de Kovel, Carolien, Fichera, Marco, Gaus, Verena, Sharp, Andrew J, Schreiber, Stefan, Malafosse, Alain, Helbig, Ingo, Thomas, Pierre, Muhle, Hiltrud, Klein, Karl M, Genton, Pierre, Guipponi, Michel, Fuchs, Karoline, Sander, Thomas, Visscher, Frank, Elger, Christian E, Koeleman, Bobby P C, Møller, Rikke S, Nürnberg, Peter, Kron, Katherine L, Leu, Costin, Feucht, Martha, Reif, Philipp S, Stephani, Ulrich, Lindhout, Dick, von Spiczak, Sarah, Luciano, Daniela
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.02.2009; Nature Publishing Group
• Subjects: Adolescent; Adult; Agriculture; alpha7 Nicotinic Acetylcholine Receptor; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Case-Control Studies; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; Data base management; Diagnosis; Epilepsy; Epilepsy, Generalized - genetics; Families & family life; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetic disorders; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Health aspects; Human Genetics; Humans; Independent sample; Male; Medical sciences; Mental disorders; Nervous system (semeiology, syndromes); Neurology; Receptors, Nicotinic - genetics; Risk Factors; Schizophrenia; Young Adult; United States; Nervous system diseases; Epilepsy; Central nervous system disease; Idiopathic; Risk; Generalized; Cerebral disorder
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.292

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.