Reference : Exome-wide analysis of mutational burden in patients with typical and atypical Roland...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/34141
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy
English
Bobbili, Dheeraj Reddy* mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Lal, Dennis* []
May, Patrick* mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Reinthaler, Eva M. []
Jabbari, Kamel []
Thiele, Holger []
Nothnagel, Michael []
Jurkowski, Wiktor []
EuroEPINOMICS COGIE Consortium []
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Feucht, Martha []
Nürnberg, Peter []
Lerche, Holger []
Zimprich, Fritz []
Krause, Roland mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Neubauer, Bernd A. []
* These authors have contributed equally to this work.
22-Jan-2018
European Journal of Human Genetics
Nature Publishing Group
Yes (verified by ORBilu)
International
1018-4813
1476-5438
London
United Kingdom
[en] Epilepsy ; Exome Sequencing ; Rolandic Epilepsy
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) ; University of Luxembourg: High Performance Computing - ULHPC
Researchers
http://hdl.handle.net/10993/34141
10.1038/s41431-017-0034-x
https://www.nature.com/articles/s41431-017-0034-x

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