AI Article Synopsis
- Rolandic epilepsy (RE) is the most common type of focal epilepsy found in children, and this study focuses on the genetic aspects of RE and atypical RE (ARE).
- Whole-exome sequencing was performed on 194 unrelated patients with RE/ARE and compared with 567 control subjects, revealing a significant enrichment of harmful variants in the established RE/ARE gene GRIN2A.
- However, this genetic significance diminished when ARE patients were excluded from the analysis, although some gene sets showed a higher odds ratio for loss-of-function variants.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839048 | PMC |
| http://dx.doi.org/10.1038/s41431-017-0034-x | DOI Listing |
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