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• W2784991796 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." @default.
• W2784991796 created "2018-02-02" @default.
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• W2784991796 date "2018-01-22" @default.
• W2784991796 modified "2023-10-13" @default.
• W2784991796 title "Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy" @default.
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• W2784991796 doi "https://doi.org/10.1038/s41431-017-0034-x" @default.
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