De novo variants in neurodevelopmental disorders with epilepsy

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http://hdl.handle.net/10138/303674

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EuroEPINOMICS- RES Consortium , Heyne , H O , Linnankivi , T , Palotie , A , Daly , M J & Lehesjoki , A-E 2018 , ' De novo variants in neurodevelopmental disorders with epilepsy ' , Nature Genetics , vol. 50 , no. 7 , pp. 1048-1058 . https://doi.org/10.1038/s41588-018-0143-7

Title: De novo variants in neurodevelopmental disorders with epilepsy
Author: EuroEPINOMICS- RES Consortium; Heyne, Henrike O.; Linnankivi, Tarja; Palotie, Aarno; Daly, Mark J.; Lehesjoki, Anna-Elina
Contributor: University of Helsinki, Children's Hospital
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Broad Inst, Broad Institute, Harvard University, Massachusetts Institute of Technology (MIT), Program Med & Populat Genet
University of Helsinki, Research Programme for Molecular Neurology
Date: 2018-07
Language: eng
Number of pages: 11
Belongs to series: Nature Genetics
ISSN: 1061-4036
URI: http://hdl.handle.net/10138/303674
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 disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.
Subject: AUTISM SPECTRUM DISORDER
INTELLECTUAL DISABILITY
KCNQ2 ENCEPHALOPATHY
SEQUENCE VARIANTS
ILAE COMMISSION
HUMAN-DISEASE
MUTATIONS
CLASSIFICATION
TERMINOLOGY
PREVALENCE
3111 Biomedicine
1184 Genetics, developmental biology, physiology
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