Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2010-01, Vol.133 (1), p.23-32
Hauptverfasser:	de Kovel, Carolien G. F., Trucks, Holger, Helbig, Ingo, Mefford, Heather C., Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuß-Lie, Ailing A., Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M., Hamer, Hajo M., Rosenow, Felix, Brilstra, Eva H., Kasteleijn-Nolst Trenité, Dorothée, Swinkels, Marielle E. M., Weber, Yvonne G., Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E., Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P. C., Lindhout, Dick, Eichler, Evan E., Sander, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent association Biological and medical sciences Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 15 - genetics Chromosomes, Human, Pair 16 - genetics Cohort Studies Epilepsy, Generalized - etiology Epilepsy, Generalized - genetics Female Genetic Predisposition to Disease - genetics genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans idiopathic generalized epilepsy Male Medical sciences microdeletions Nervous system (semeiology, syndromes) Neurology Original Pedigree Young Adult
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