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

This large cohort study refines the genetic landscape of epilepsy, informs classification challenges, and enhances genetic testing strategies, ultimately improving patient care and future research directions.

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Institutions

Publication Details

Journal
European Journal of Neurology
Published
2025-08-01
DOI
https://doi.org/10.1111/ene.70324
Citations
5
Primary Topic
Epilepsy research and treatment
Type
article
Field-Weighted Citation Impact
7.36
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article

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

Béatrice Desnous, Juliette Piard, Laurent Villard, Florence Démurger et al.
5 citations
European Journal of Neurology
Epilepsy research and treatment
7.36
article

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

Béatrice Desnous, Juliette Piard, Laurent Villard, Florence Démurger, Florence Riccardi, Éric Leguern, Hélène Maurey, Anne‐Lise Poulat, Laurent Pasquier, Blandine Dozières‐Puyravel, Mélanie Fradin, Wilfrid Carré, Dorothée Ville, Caroline Nava, Sophie Julia, Nathalie Villeneuve, Pauline Monin, Cécilia Altuzarra, Gaëtan Lesca, Eleni Panagiotakaki, Sylvie Joriot, Christèle Dubourg, V. Flurin, Ganaëlle Remérand, Marie Faoucher, Clotilde Rivier, Catherine Sarret, Jean‐Madeleine de Sainte Agathe, Sandrine Tardieu, Stéphane Auvin, Diane Doummar, Vincent Navarro, Radka Stoeva, Cyril Mignot, Kathy Larcher, Isabelle Gourfinkel‐An, Damien Sanlaville, Sylvie Odent, Abdelhakim Bouazzaoui, Bénédicte Héron, Anne‐Marie Guerrot, Mathieu Milh, Laurence Perrin, Nicolas Chatron, Miriam Essid, Sylvie Nguyen, Mathilde Canon, Vincent des Portes, Lionel Arnaud, Caroline Hachon‐Le Camus, Anne Lépine, Élise Boucher, Marie‐Line Jacquemont
article en
5 citations

Abstract

This large cohort study refines the genetic landscape of epilepsy, informs classification challenges, and enhances genetic testing strategies, ultimately improving patient care and future research directions.

European Journal of NeurologyVol. 32(8)
Université Claude Bernard Lyon 1 (FR), Centre National de la Recherche Scientifique (FR), Inserm (FR), Université de Bourgogne (FR), Institut Universitaire de France (FR), Université Paris Cité (FR), Aix-Marseille Université (FR), Centre Hospitalier Universitaire de Lille (FR), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), Assistance Publique Hôpitaux de Marseille (FR), Centre Hospitalier Universitaire de Besançon (FR), Sorbonne Paris Cité (FR), Centre Hospitalier Universitaire de Tours (FR), Assistance Publique – Hôpitaux de Paris (FR), Hôpital Albert Calmette (FR), Hospices Civils de Lyon (FR), Hôpital d'Enfants (FR), Centre hospitalier Bretagne Atlantique (FR), Institut de Myologie (FR), Hôpital Nord (FR), CIC Rennes (FR), Pitié-Salpêtrière Hospital (FR), Institut NeuroMyoGène (FR), Centre Hospitalier du Mans (FR), Hôpital Robert-Debré (FR), Institut de génétique et de développement de Rennes (FR), Centre Hospitalier Universitaire de Clermont-Ferrand (FR), Hôpital Raymond-Poincaré (FR), Hôpital Purpan (FR), Hôpital d'Instruction des Armées Sainte-Anne (FR), Centre Hospitalier de La Rochelle (FR), Hôpital des Enfants (FR), Génétique Moléculaire Génomique Microbiologie (FR), Centre Hospitalier Intercommunal Toulon-La Seyne-sur-Mer (FR), Institut du Cerveau (FR), Laboratoire de Génétique Cellulaire (FR), Centre Hospitalier Universitaire de Rouen (FR), Hôpital Claude Huriez (FR), Centre Hospitalier Universitaire de Rennes (FR), Hôpital de la Timone (FR), Bicêtre Hospital (FR), NeuroDiderot (FR), Université de Rennes (FR), Université de Rouen Normandie (FR), Université de Franche-Comté (FR)
Good health and well-being
Openalex Percentile: Top 3%
Epilepsy research and treatment
7.36
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