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September 10, 2025European Journal of NeurologyOpen Access

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

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Authors

JAJean‐Madeleine de Sainte AgathePMPauline MoninFRFlorence Riccardi

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Overview

Multicenter cohort study identifies genetic causes in epilepsy, highlighting genotype–phenotype correlations.

Key Points

  • Overall, 27% of epilepsy patients had pathogenic variants, primarily identified through genetic testing.
  • Dravet Syndrome Spectrum exhibited the highest diagnostic yield at 41%, while self-limited neonatal epilepsy reached 50%.
  • Analysis utilized multivariate logistic regression to study diagnostic rates across different epilepsy syndromes.
  • Identifying genetic factors can improve patient care and support the development of future research directions.

Cite This Study

Agathe et al. (2025) studied this question.

synapsesocial.com/papers/68c1bd2a54b1d3bfb60ee18ehttps://doi.org/10.1111/ene.70324
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