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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Original Articles
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky