Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Item Type:	Article
Title:	Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Creators Name:	Bobbili, D.R. and Lal, D. and May, P. and Reinthaler, E.M. and Jabbari, K. and Thiele, H. and Nothnagel, M. and Jurkowski, W. and Feucht, M. and Nürnberg, P. and Lerche, H. and Zimprich, F. and Krause, R. and Neubauer, B.A. and Reinthaler, E.M. and Zimprich, F. and Feucht, M. and Steinböck, H. and Neophytou, B. and Geldner, J. and Gruber-Sedlmayr, U. and Haberlandt, E. and Ronen, G.M. and Altmüller, J. and Lal, D. and Nürnberg, P. and Sander, T. and Thiele, H. and Krause, R. and May, P. and Balling, R. and Lerche, H. and Neubauer, B.A.
Abstract:	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.
Keywords:	Rolandic Epilepsy, Exome, Loss of Function Mutation, N-Methyl-D-Aspartate Receptors
Source:	European Journal of Human Genetics
ISSN:	1018-4813
Publisher:	Nature Publishing Group
Volume:	26
Number:	2
Page Range:	258-264
Date:	February 2018
Official Publication:	https://doi.org/10.1038/s41431-017-0034-x
PubMed:	View item in PubMed

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