Journal article
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
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 …
Authors
Bobbili DR; Lal D; May P; Reinthaler EM; Jabbari K; Thiele H; Nothnagel M; Jurkowski W; Feucht M; Nürnberg P
Journal
European Journal of Human Genetics, Vol. 26, No. 2, pp. 258–264
Publisher
Springer Nature
Publication Date
2 2018
DOI
10.1038/s41431-017-0034-x
ISSN
1018-4813