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- W2948953603 abstract "Abstract Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique to an individual are significantly overrepresented in EE/DEE, both in known EE/DEE genes and the other non-EE/DEE genes. Importantly, enrichment of dURVs in non-EE/DEE genes is significant, even in the subset of cases with diagnostic dURVs ( P = 0.000215), suggesting oligogenic contribution of non-EE/DEE gene dURVs. Gene-based analysis identifies exome-wide significant ( P = 2.04 × 10 −6 ) enrichment of damaging de novo mutations in NF1 , a gene primarily linked to neurofibromatosis, in infantile spasm. Together with accumulating evidence for roles of oligogenic or modifier variants in severe neurodevelopmental disorders, our results highlight genetic complexity in EE/DEE, and indicate that EE/DEE is not an aggregate of simple Mendelian disorders." @default.
- W2948953603 created "2019-06-14" @default.
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- W2948953603 date "2019-06-07" @default.
- W2948953603 modified "2023-10-18" @default.
- W2948953603 title "Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy" @default.
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