De novo variants in neurodevelopmental disorders with epilepsy
Abstract
Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent–offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of...
Paper Details
Title
De novo variants in neurodevelopmental disorders with epilepsy
Published Date
Jun 25, 2018
Journal
Volume
50
Issue
7
Pages
1048 - 1053
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