Article (Scientific journals)
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy
BOBBILI, Dheeraj Reddy; Lal, Dennis; MAY, Patrick et al.
2018In European Journal of Human Genetics
Peer Reviewed verified by ORBi
 

Files


Full Text
rolandic_paper.final.pdf
Publisher postprint (813.62 kB)
Request a copy

All documents in ORBilu are protected by a user license.

Send to



Details



Keywords :
Epilepsy; Exome Sequencing; Rolandic Epilepsy
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
ULHPC - University of Luxembourg: High Performance Computing
Disciplines :
Genetics & genetic processes
Author, co-author :
BOBBILI, Dheeraj Reddy  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Lal, Dennis 
MAY, Patrick   ;  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 ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Feucht, Martha
Nürnberg, Peter
Lerche, Holger
Zimprich, Fritz
KRAUSE, Roland  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Neubauer, Bernd A.
More authors (6 more) Less
 These authors have contributed equally to this work.
External co-authors :
yes
Language :
English
Title :
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy
Publication date :
22 January 2018
Journal title :
European Journal of Human Genetics
ISSN :
1018-4813
eISSN :
1476-5438
Publisher :
Nature Publishing Group, London, United Kingdom
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 22 January 2018

Statistics


Number of views
143 (27 by Unilu)
Number of downloads
2 (0 by Unilu)

Scopus citations®
 
22
Scopus citations®
without self-citations
20
OpenCitations
 
14
WoS citations
 
19

Bibliography


Similar publications



Contact ORBilu