Cargando…
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...
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 |
Ejemplares similares
-
Polygenic burden in focal and generalized epilepsies
por: Leu, Costin, et al.
Publicado: (2019) -
Rare gene deletions in genetic generalized and Rolandic epilepsies
por: Jabbari, Kamel, et al.
Publicado: (2018) -
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
por: Pérez-Palma, Eduardo, et al.
Publicado: (2017) -
The burden of epilepsy and unmet need in people with focal seizures
por: Ioannou, Persefoni, et al.
Publicado: (2022) -
Corrigendum to: Polygenic burden in focal and generalized epilepsies
Publicado: (2020)