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

Bobbili, D.R.; Lal, D.; May, P.; Reinthaler, E.M.; Jabbari, K.; Thiele, H.; Nothnagel, M.; Jurkowski, W.; Feucht, M.; Nürnberg, P.; Lerche, H.; Zimprich, F.; Krause, R.; Neubauer, B.A.; Reinthaler, E.M.; Zimprich, F.; Feucht, M.; Steinböck, H.; Neophytou, B.; Geldner, J.; Gruber-Sedlmayr, U.; Haberlandt, E.; Ronen, G.M.; Altmüller, J.; Lal, D.; Nürnberg, P.; Sander, T.; Thiele, H.; Krause, R.; May, P.; Balling, R.; Lerche, H.; Neubauer, B.A.

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

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Item Type:	Article
Title:	Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
Creators Name:	Bobbili, D.R., Lal, D., May, P., Reinthaler, E.M., Jabbari, K., Thiele, H., Nothnagel, M., Jurkowski, W., Feucht, M., Nürnberg, P., Lerche, H., Zimprich, F., Krause, R., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, G.M., Altmüller, J., Lal, D., Nürnberg, P., Sander, T., Thiele, H., Krause, R., May, P., Balling, R., 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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