Genetic etiologies with a large <scp>NGS</scp> panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
This study emphasizes the importance of accurately identifying different types of epilepsy and epilepsy syndromes to improve genetic testing strategies. We suggest that a targeted gene panel can be a good first step for some genetic conditions, such as benign familial neonatal/infantile epilepsy, Dravet syndrome, and epilepsy of infancy with migrating focal seizures.
Authors
- Nicole Chémaly (ORCID: https://orcid.org/0000-0002-2333-9408)
- Anna Kamińska (ORCID: https://orcid.org/0000-0003-3805-6651)
- Emma Losito (ORCID: https://orcid.org/0000-0003-3418-7419)
- Sylvain Hanein (ORCID: https://orcid.org/0000-0001-5817-6330)
- Rima Nabbout (ORCID: https://orcid.org/0000-0001-5877-4074)
- Rémi Barrois (ORCID: https://orcid.org/0000-0001-8877-5035)
- Giulia Barcia (ORCID: https://orcid.org/0000-0001-6657-5040)
- Mélodie Aubart (ORCID: https://orcid.org/0000-0002-4383-7930)
- Zahra Assouline
- Marie Hully (ORCID: https://orcid.org/0000-0002-1742-3590)
- Cécile Fourrage
- Marlène Rio (ORCID: https://orcid.org/0000-0003-2049-5058)
- Monika Eisermann (ORCID: https://orcid.org/0000-0003-3634-2101)
- Christine Barnérias (ORCID: https://orcid.org/0000-0003-3633-7273)
- Julie Steffann (ORCID: https://orcid.org/0000-0001-9493-3239)
- Doxa Eleni Sareidaki
- Stéphanie Gobin‐Limballe
- Eugénie Sarda
- Nathalie Boddaert
- Pauline Planté‐Bordeneuve
- I. Desguerre
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2025-05-10
- DOI
- https://doi.org/10.1002/epi4.70057
- Citations
- 9
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 16.36
Funders
- Agence Nationale de la Recherche