Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies
Early clinical and EEG features showed meaningful associations with outcomes and mapped onto specific genetic etiologies. HCA revealed coherent genotype-phenotype clusters that may support early diagnostic reasoning. Limitations include the retrospective design and small numbers per gene, warranting larger multicenter studies for validation.
Authors
- Luca De Palma (ORCID: https://orcid.org/0000-0002-0714-8230)
- Costanza Calabrese (ORCID: https://orcid.org/0000-0002-8430-4508)
- Fabrizia Stregapede (ORCID: https://orcid.org/0000-0002-5680-1531)
- A. Novelli
- Marina Trivisano (ORCID: https://orcid.org/0000-0002-9841-8581)
- Cinzia Correale (ORCID: https://orcid.org/0000-0002-9302-5412)
- Simona Cappelletti (ORCID: https://orcid.org/0000-0003-0738-1240)
- Ludovica Maria Piscitello (ORCID: https://orcid.org/0000-0002-9179-770X)
- Cristina Filosomi
- Giusy Carfì Pavia
- Mattia Mercier
- Angela De Dominicis
- Nicola Specchio
Institutions
- Istituto Superiore di Sanità (IT)
- Bambino Gesù Children's Hospital (IT)
- Sapienza University of Rome (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Neurology
- Published
- 2026-03-12
- DOI
- https://doi.org/10.1212/wnl.0000000000214761
- Citations
- 1
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 33.12