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Article

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.

Epilepsia - 1 Mar 2026

Stevelink Remi, Piet M Martijn, Bos Yorgos, van 't Slot Ruben, Braun Kees P J, Koeleman Bobby P C

Abstract excerpt

OBJECTIVE: The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counseling and individualized treatment. Penetrance is usually considered to be high or full, although this has never been studied in population cohorts. Recent evidence shows that common polygenic risk factors (polygenic risk score [PRS]) are increased in DEE cases, suggesting they might...

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Identifiers

PMID: 41235507
DOI: 10.1111/epi.70018
PMCID: PMC13007826

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