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.
Distinct gene-set burden patterns underlie common generalized and focal epilepsies / Mahmoud Koko , Roland Krause , Thomas Sander , Dheeraj Reddy Bobbili , Michael Nothnagel , Patrick May , Holger Lerche , Epi25 Collaborative, Renzo Guerrini. - In: EBIOMEDICINE. - ISSN 2352-3964. - ELETTRONICO. - 72:(2021), pp. 0-0. [10.1016/j.ebiom.2021.103588]
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Renzo Guerrini
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.File in questo prodotto:
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