Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
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ABSTRACT:
SUBMITTER: Bobbili DR
PROVIDER: S-EPMC5839048 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Publications
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili Dheeraj R DR Lal Dennis D May Patrick P Reinthaler Eva M EM Jabbari Kamel K Thiele Holger H Nothnagel Michael M Jurkowski Wiktor W Feucht Martha M Nürnberg Peter P Lerche Holger H Zimprich Fritz F Krause Roland R Neubauer Bernd A BA Reinthaler Eva M EM Zimprich Fritz F Feucht Martha M Steinböck Hannelore H Neophytou Birgit B Geldner Julia J Gruber-Sedlmayr Ursula U Haberlandt Edda E Ronen Gabriel M GM Altmüller Janine J Lal Dennis D Nürnberg Peter P Sander Thomas T Thiele Holger H Krause Roland R May Patrick P Balling Rudi R Lerche Holger H Neubauer Bernd A BA
European journal of human genetics : EJHG 20180122 2
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 d ...[more]
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