Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7364765/
https://ncbi.nlm.nih.gov/pubmed/32568404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa171
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