De novo variants in neurodevelopmental disorders with epilepsy
ContributorsHeyne, 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; EuroEPINOMICS-RES Consortium
CollaboratorsKorff, Christian
Published inNature Genetics, vol. 50, no. 7, p. 1048-1053
Publication date2018
Abstract
Keywords
- Epilepsy/genetics
- Exome/genetics
- Female
- Genetic Predisposition to Disease/genetics
- Genetic Testing/methods
- Genetic Variation/genetics
- Humans
- Intellectual Disability/genetics
- Male
- Neurodevelopmental Disorders/genetics
Citation (ISO format)
HEYNE, Henrike O et al. De novo variants in neurodevelopmental disorders with epilepsy. In: Nature Genetics, 2018, vol. 50, n° 7, p. 1048–1053. doi: 10.1038/s41588-018-0143-7
Main files (1)
Article (Published version)
Identifiers
- PID : unige:128287
- DOI : 10.1038/s41588-018-0143-7
- PMID : 29942082
ISSN of the journal1061-4036