Article (Scientific journals)
De novo Variants in Neurodevelopmental Disorders with Epilepsy
Heyne, Henrike O.; Singh, Tarijinder; Stamberger, Hannah et al.
2018In Nature Genetics
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Keywords :
Epilepsy; Neurodevelopment; de novo mutations
Abstract :
[en] 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 limited evidence for disease association. Joint analysis of all individuals with NDD also implicated CACNA1E as a novel disease gene. Comparing NDD with and without epilepsy, we found missense DNV, DNV in specific genes, age of recruitment and severity of intellectual disability to be associated with epilepsy. We further demonstrate to what extent our results impact current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDD with epilepsy.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Genetics & genetic processes
Neurology
Author, co-author :
Heyne, Henrike O.
Singh, Tarijinder
Stamberger, Hannah
Jamra, Rami Abou
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Guerrini, Renzo
Helbig, Katherine L.
Koeleman, Bobby P.C.
Kosmicki, Jack A.
Linnankivi, Tarja
May, Patrick  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Muhle, Hiltrud
Møller, Rikke S.
Neubauer, Bernd A.
Palotie, Aarno
Pendziwiat, Manuela
Striano, Pasquale
Tang, Sha
Wu, Sitao
EUROEPINOMICS RES Consortium
Poduri, Annapurna
Weber, Yvonne G.
Weckhuysen, Sarah
Sisodiya, Sanjay M.
Daly, Mark
Helbig, Ingo
Lal, Dennis
Lemke, Johannes R.
More authors (20 more) Less
External co-authors :
yes
Language :
English
Title :
De novo Variants in Neurodevelopmental Disorders with Epilepsy
Publication date :
25 June 2018
Journal title :
Nature Genetics
ISSN :
1546-1718
Publisher :
Nature Publishing Group, New York, United States - New York
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 26 June 2018

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