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Article

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Nature communications - 20 Jul 2023

Montanucci Ludovica, Lewis-Smith David, Collins Ryan L, Niestroj Lisa-Marie, Parthasarathy Shridhar, Xian Julie, Ganesan Shiva, Macnee Marie, Brünger Tobias, Thomas Rhys H, Talkowski Michael, Helbig Ingo, Leu Costin, Lal Dennis

Abstract excerpt

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37474567
DOI: 10.1038/s41467-023-39539-6
PMCID: PMC10359300

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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