Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects
Our study demonstrates that, despite the phenotypic and genetic pleiotropy observed in EPIMDs, a precise characterization of semiological and cognitive features remains essential to support variant interpretation and to refine the diagnostic process and patient management in these rare conditions.
Authors
- Francesca L. Sciacca (ORCID: https://orcid.org/0000-0002-7411-4567)
- Francesca Ragona (ORCID: https://orcid.org/0000-0003-1399-8271)
- Davide Caputo (ORCID: https://orcid.org/0000-0002-8505-3894)
- Federica Zibordi (ORCID: https://orcid.org/0000-0003-2940-5389)
- Laura Canafoglia (ORCID: https://orcid.org/0000-0002-5385-761X)
- Silvana Franceschetti (ORCID: https://orcid.org/0000-0002-1921-6755)
- Tiziana Granata (ORCID: https://orcid.org/0000-0002-0170-6836)
- Nardo Nardocci (ORCID: https://orcid.org/0000-0001-5863-5592)
- Cinzia Gellera
- Barbara Castellotti (ORCID: https://orcid.org/0000-0002-9098-3041)
- Elena Freri (ORCID: https://orcid.org/0000-0002-2293-8687)
- Celeste Panteghini (ORCID: https://orcid.org/0000-0003-1341-7641)
- Giovanna Zorzi (ORCID: https://orcid.org/0000-0001-7041-5365)
- Elisa Visani (ORCID: https://orcid.org/0000-0002-1399-2630)
- Shari Gandelli (ORCID: https://orcid.org/0009-0006-6936-623X)
Institutions
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1111/epi.18669
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute
- Fondazione Pierfranco e Luisa Mariani