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Article

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

EBioMedicine - 1 Oct 2021

Koko Mahmoud, Krause Roland, Sander Thomas, Bobbili Dheeraj Reddy, Nothnagel Michael, May Patrick, Lerche Holger

Abstract excerpt

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...

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Identifiers

PMID: 34571366
DOI: 10.1016/j.ebiom.2021.103588
PMCID: PMC8479647

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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