Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
European journal of human genetics : EJHG - 1 Jul 2014
Helbig Ingo, Swinkels Marielle E M, Aten Emmelien, Caliebe Almuth, van 't Slot Ruben, Boor Rainer, von Spiczak Sarah, Muhle Hiltrud, Jähn Johanna A, van Binsbergen Ellen, van Nieuwenhuizen Onno, Jansen Floor E, Braun Kees P J, de Haan Gerrit-Jan, Tommerup Niels, Stephani Ulrich, Hjalgrim Helle, Poot Martin, Lindhout Dick, Brilstra Eva H, Møller Rikke S, Koeleman Bobby P C
Abstract excerpt
A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European...
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