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

Eur J Hum Genet
Authors
Keywords
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.

Year of Publication
2018
Journal
Eur J Hum Genet
Volume
26
Issue
2
Pages
258-264
Date Published
2018 02
ISSN
1476-5438
DOI
10.1038/s41431-017-0034-x
PubMed ID
29358611
PubMed Central ID
PMC5839048
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