Article
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
PLoS genetics - 20 May 2010
Mefford Heather C, Muhle Hiltrud, Ostertag Philipp, von Spiczak Sarah, Buysse Karen, Baker Carl, Franke Andre, Malafosse Alain, Genton Pierre, Thomas Pierre, Gurnett Christina A, Schreiber Stefan, Bassuk Alexander G, Guipponi Michel, Stephani Ulrich, Helbig Ingo, Eichler Evan E
Abstract excerpt
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal dominant and severe sporadic forms of epilepsy, but the genetic cause is unknown in the vast majority of cases. Copy number variants (CNVs) are known to play an important role in the genetic etiology of many neurodevelopmental disorders,...
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