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Article

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

EBioMedicine - 1 Nov 2024

Oliver Karen L, Scheffer Ingrid E, Ellis Colin A, Grinton Bronwyn E, Berkovic Samuel F, Bahlo Melanie

Abstract excerpt

BACKGROUND: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and phenotypic expression of rare pathogenic variants in familial epilepsies. METHODS: We studied 58 clinically heterogeneous families with genetic epilepsy with febrile seizures plus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39476534
DOI: 10.1016/j.ebiom.2024.105404
PMCID: PMC11558038

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