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Article

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

1 Aug 2025

Abstract excerpt

BACKGROUND: Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treatment, prognosis, and family planning. In France, genetic testing is coordinated through the EpiGene network. METHODS: We analyzed clinical and genetic data from 2563 epilepsy...

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PMID: 40778729
DOI: 10.1111/ene.70324

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