Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study
Except for the need to promptly identify diseases for which precision medicine treatments are available, a first-line genetic approach seems reasonable to investigate children diagnosed with epileptic myoclonus.
Authors
- François‐Xavier Mauvais (ORCID: https://orcid.org/0000-0002-5240-4280)
- Blandine Dozières‐Puyravel (ORCID: https://orcid.org/0000-0002-2857-1767)
- Séverine Brulé
- Hala Nasser
- Monique Elmaleh (ORCID: https://orcid.org/0000-0001-8190-8202)
- Stéphane Auvin (ORCID: https://orcid.org/0000-0003-3874-9749)
Institutions
- Institut Universitaire de France (FR)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- NeuroDiderot (FR)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1111/epi.18383
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67
Funders
- Agence Nationale de la Recherche