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

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.

Methods

The burden of 12 URV types in 92 gene-sets was compared between cases and controls using whole exome sequencing data from individuals of European descent with developmental and epileptic encephalopathies (DEE, n = 1,003), genetic generalized epilepsy (GGE, n = 3,064), or non-acquired focal epilepsy (NAFE, n = 3,522), collected by the Epi25 Collaborative, compared to 3,962 ancestry-matched controls.

Findings

Missense URVs in highly constrained regions were enriched in neuron-specific and

SUBMITTER: Koko M 

PROVIDER: S-EPMC8479647 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature