Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
EUROPEAN JOURNAL OF HUMAN GENETICS(2018)
摘要
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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关键词
Genetics research,Neurological disorders,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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