De novo variants in neurodevelopmental disorders with epilepsy.

doi:10.1038/s41588-018-0143-7

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Article

De novo variants in neurodevelopmental disorders with epilepsy.

Nature genetics - 1 Jul 2018

Heyne Henrike O, Singh Tarjinder, Stamberger Hannah, Abou Jamra Rami, Caglayan Hande, Craiu Dana, De Jonghe Peter, Guerrini Renzo, Helbig Katherine L, Koeleman Bobby P C, Kosmicki Jack A, Linnankivi Tarja, May Patrick, Muhle Hiltrud, Møller Rikke S, Neubauer Bernd A, Palotie Aarno, Pendziwiat Manuela, Striano Pasquale, Tang Sha, Wu Sitao, Poduri Annapurna, Weber Yvonne G, Weckhuysen Sarah, Sisodiya Sanjay M, Daly Mark J, Helbig Ingo, Lal Dennis, Lemke Johannes R

Abstract excerpt

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...

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Identifiers

PMID: 29942082
DOI: 10.1038/s41588-018-0143-7

Genes

GABRB2
SNAP25

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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