| Literature DB >> 29358611 |
Dheeraj R Bobbili1, Dennis Lal2, Patrick May1, Eva M Reinthaler6, Kamel Jabbari7, Holger Thiele2, Michael Nothnagel2, Wiktor Jurkowski1,8, Martha Feucht13, Peter Nürnberg2, Holger Lerche10, Fritz Zimprich6, Roland Krause1, Bernd A Neubauer20, Eva M Reinthaler6, Fritz Zimprich6, Martha Feucht13, Hannelore Steinböck14, Birgit Neophytou15, Julia Geldner16, Ursula Gruber-Sedlmayr17, Edda Haberlandt18, Gabriel M Ronen19, Janine Altmüller2, Dennis Lal2, Peter Nürnberg2, Thomas Sander2, Holger Thiele2, Roland Krause1, Patrick May1, Rudi Balling1, Holger Lerche10, Bernd A Neubauer20.
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.Entities:
Mesh：
Substances：
Year: 2018 PMID： 29358611 PMCID： PMC5839048 DOI： 10.1038/s41431-017-0034-x
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246