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
|
Links |