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Bobbili, Dheeraj R; Lal, Dennis; May, Patrick; Reinthaler, Eva M; Jabbari, Kamel; Thiele, Holger; Nothnagel, Michael; Jurkowski, Wiktor; Feucht, Martha; Nürnberg, Peter; Lerche, Holger; Zimprich, Fritz; Krause, Roland; Neubauer, Bernd A; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M; Altmüller, Janine; Lal, Dennis; Sander, Thomas; Krause, Roland; May, Patrick; Balling, Rudi; Neubauer, Bernd A
European journal of human genetics : EJHG, 02/2018, Letnik: 26, Številka: 2Journal Article
Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio >1 was detected for loss-of-function variants.
