Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Absence seizures are a common manifestation of different monogenic epilepsies, often associated with early onset, atypical clinical and/or EEG features, developmental delay or drug resistance. Classification models should incorporate genetic data alongside electroclinical features, especially as next-generation sequencing is increasingly used.
Authors
- Elena Parrini (ORCID: https://orcid.org/0000-0001-8933-7694)
- Francesca Bisulli (ORCID: https://orcid.org/0000-0002-1109-7296)
- Francesca Darra (ORCID: https://orcid.org/0000-0002-1062-8438)
- Davide Caputo (ORCID: https://orcid.org/0000-0002-8505-3894)
- Domenica Battaglia (ORCID: https://orcid.org/0000-0003-0491-4021)
- Mario Mastrangelo (ORCID: https://orcid.org/0000-0001-7664-5807)
- Laura Canafoglia (ORCID: https://orcid.org/0000-0002-5385-761X)
- Emanuele Cerulli Irelli (ORCID: https://orcid.org/0000-0003-3906-555X)
- Lucio Giordano (ORCID: https://orcid.org/0000-0002-6736-4330)
- Marina Trivisano (ORCID: https://orcid.org/0000-0002-9841-8581)
- Angela De Dominicis (ORCID: https://orcid.org/0000-0002-8526-1511)
- Tommaso Lo Barco (ORCID: https://orcid.org/0000-0002-3103-230X)
- Davide Mei (ORCID: https://orcid.org/0000-0001-6790-6251)
- Simona Balestrini (ORCID: https://orcid.org/0000-0001-5639-1969)
- Francesco Pisani (ORCID: https://orcid.org/0000-0002-1083-5576)
- Elisabetta Cesaroni (ORCID: https://orcid.org/0000-0002-7177-4500)
- Nicola Specchio (ORCID: https://orcid.org/0000-0002-8120-0287)
- Marco Perulli (ORCID: https://orcid.org/0000-0003-3311-2765)
- Jacopo Proietti (ORCID: https://orcid.org/0000-0002-5584-4724)
- Antonietta Coppola (ORCID: https://orcid.org/0000-0002-4845-4293)
- Ilaria Camilla Galli
- Laura Licchetta (ORCID: https://orcid.org/0000-0001-7979-9895)
- Carlo Di Bonaventura (ORCID: https://orcid.org/0000-0003-1890-5409)
- Carla Marini (ORCID: https://orcid.org/0000-0002-9212-2691)
- Corinna Filippi (ORCID: https://orcid.org/0000-0003-0603-0529)
- Marica Rubino
- Maria Luisa Ricci
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Verona (IT)
- Marche Polytechnic University (IT)
- Policlinico Umberto I (IT)
- Agostino Gemelli University Polyclinic (IT)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Meyer Children's Hospital (IT)
- Federico II University Hospital (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Florence (IT)
- University of Brescia (IT)
- Sapienza University of Rome (IT)
- University of Bologna (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-25
- DOI
- https://doi.org/10.1111/epi.18655
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Ospedale Pediatrico Bambino Gesù
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta