Article

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

2025-10-17

Abstract excerpt

The identification of pathogenic variants in developmental epileptic encephalopathy (DEE) genes can be vital for counselling 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 (PRS) are increased in DEE cases, suggesting it might modify risk. Here, we calculated the p...

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Literature Corpus work: 229f86e7-d2cd-5abf-b826-2b89170c02ad
DOI: 10.1101/2025.10.16.25338116

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