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

Academic Article
Publication Date:
2021
abstract:
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.
Iris type:
01.01 Articolo in rivista
Keywords:
Burden analysis; Ultra-rare variants; Gene-sets; Epilepsy; Exome sequencing
List of contributors:
Authors of the University:
Handle:
https://iris.cnr.it/handle/20.500.14243/440540
Published in:
EBIOMEDICINE
Journal