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De novo Variants in Neurodevelopmental Disorders with Epilepsy
Heyne, Henrike O.; EuroEPINOMICS RES Consortium; Abou Jamra, Rami et al.
2018
 

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Keywords :
Neurodevelopmental disorders; De novo variants; epilepsy
Abstract :
[en] Neurodevelopmental disorders (NDD) with epilepsy constitute a complex and heterogeneous phenotypic spectrum of largely unclear genetic architecture. We conducted exome-wide enrichment analyses for protein-altering de novo variants (DNV) in 7088 parent-offspring trios with NDD of which 2151 were comorbid with epilepsy. In this cohort, the genetic spectrum of epileptic encephalopathy (EE) and nonspecific NDD with epilepsy were markedly similar. We identified 33 genes significantly enriched for DNV in NDD with epilepsy, of which 27.3 were associated with therapeutic consequences. These 33 DNV-enriched genes were more often associated with synaptic transmission but less with chromatin modification when compared to NDD without epilepsy. On average, only 53 of the DNV-enriched genes were represented on available diagnostic sequencing panels, so our findings should drive significant improvements of genetic testing approaches.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
ULHPC - University of Luxembourg: High Performance Computing
Disciplines :
Genetics & genetic processes
Author, co-author :
Heyne, Henrike O.
EuroEPINOMICS RES Consortium
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  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Muhle, Hiltrud
Moeller, Rikke S.
Neubauer, Bernd
Palotie, Aarno
Pendziwiat, Manuela
Stamberger, Hannah
Striano, Pasquale
Tang, Sha
Wu, Sitao
Daly, Mark J.
Poduri, Annapurna
Weber, Yvonne
Weckhuysen, Sarah
Sisodiya, Sanjay M.
Helbig, Ingo
Lal, Dennis
Lemke, Johannes R.
More authors (19 more) Less
Language :
English
Title :
De novo Variants in Neurodevelopmental Disorders with Epilepsy
Publication date :
05 January 2018
Publisher :
Cold Spring Harbor Labs Journals
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 10 May 2017

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