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Article

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Brain : a journal of neurology - 1 Jul 2020

Niestroj Lisa-Marie, Perez-Palma Eduardo, Howrigan Daniel P, Zhou Yadi, Cheng Feixiong, Saarentaus Elmo, Nürnberg Peter, Stevelink Remi, Daly Mark J, Palotie Aarno, Lal Dennis

Abstract excerpt

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746...

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Identifiers

PMID: 32568404
DOI: 10.1093/brain/awaa171
PMCID: PMC7364765

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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