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

ABSTRACT:

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 patients referred to four diagnostic labs (2016-2023). Epilepsy syndromes were classified via pre-test questionnaires, and genotyping used various gene panels, including a 68-gene core panel. Multivariate logistic regression assessed diagnostic rates and genotype-phenotype correlations.

Results

Overall, 27.0% of patients had pathogenic/likely pathogenic variants,

SUBMITTER: de Sainte Agathe JM 

PROVIDER: S-EPMC12332890 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature