Reference : De novo Variants in Neurodevelopmental Disorders with Epilepsy
E-prints/Working papers : Already available on another site
Life sciences : Genetics & genetic processes
Systems Biomedicine
De novo Variants in Neurodevelopmental Disorders with Epilepsy
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 mailto [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. [> >]
Cold Spring Harbor Labs Journals
[en] Neurodevelopmental disorders ; De novo variants ; epilepsy
[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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; University of Luxembourg: High Performance Computing - ULHPC
Researchers ; Professionals ; Students ; General public

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