Article

<i>De novo</i> Variants in Neurodevelopmental Disorders with Epilepsy

2017-04-03

Abstract excerpt

Epilepsy is a frequent feature of neurodevelopmental disorders (NDD) but little is known about genetic differences between NDD with and without epilepsy. We analyzed de novo variants (DNV) in 6753 parent-offspring trios ascertained for different NDD. In the subset of 1942 individuals with NDD with epilepsy, we identified 33 genes with a significant excess of DNV, of which SNAP25 and GABRB2 had previously only l...

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Literature Corpus work: d28b462b-654c-5ca3-896d-b152dbb128f5
DOI: 10.1101/123323

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