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

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Epilepsy, Rolandic / genetics*
  • Epilepsy, Rolandic / pathology
  • Exome
  • Female
  • Humans
  • Loss of Function Mutation*
  • Male
  • Receptors, N-Methyl-D-Aspartate / genetics*


  • Receptors, N-Methyl-D-Aspartate
  • N-methyl D-aspartate receptor subtype 2A