Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Eur J Hum Genet
; 26(2): 258-264, 2018 02.
Article
in En
| MEDLINE
| ID: mdl-29358611
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.
Full text:
1
Database:
MEDLINE
Main subject:
Receptors, N-Methyl-D-Aspartate
/
Epilepsy, Rolandic
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Loss of Function Mutation
Limits:
Adolescent
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Child
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Female
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Humans
/
Male
Language:
En
Journal:
Eur J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2018
Type:
Article
Affiliation country:
Luxembourg