15q13.3 microdeletions increase risk of idiopathic generalized epilepsy by Helbig Ingo, Mefford Heather C, Sharp Andrew J, Guipponi Michel, Fichera Marco, Franke Andre, Muhle Hiltrud, de Kovel Carolien, Baker Carl, von Spiczak Sarah, Kron Katherine L, Steinich Ines, Kleefuss-Lie Ailing A, Leu Costin, Gaus Verena, Schmitz Bettina, Klein Karl M, Reif Philipp S, Rosenow Felix, Weber Yvonne, Lerche Holger, Zimprich Fritz, Urak Lydia, Fuchs Karoline, Feucht Martha, Genton Pierre, Thomas Pierre, Visscher Frank, de Haan Gerrit-Jan, Møller Rikke S, Hjalgrim Helle, Luciano Daniela, Wittig Michael, Nothnagel Michael, Elger Christian E, Nürnberg Peter, Romano Corrado, Malafosse Alain, Koeleman Bobby P C, Lindhout Dick, Stephani Ulrich, Schreiber Stefan, Eichler Evan E, Sander Thomas in Nature genetics (2009).

[PMID: 19136953] PubMed


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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