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Distinct gene-set burden patterns underlie common generalized and focal epilepsies

BACKGROUND: Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out to investigate the burden of ultra-rare variants (URVs) in a comprehensive range of biologically informed gene-sets presumed to be implicated in epileptogenesis. METHODS: The burden o...

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Detalles Bibliográficos
Autores principales: Koko, Mahmoud, Krause, Roland, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick, Lerche, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479647/
https://www.ncbi.nlm.nih.gov/pubmed/34571366
http://dx.doi.org/10.1016/j.ebiom.2021.103588