National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Our study provides a large dataset of patients with monogenic DEE, from a European country. This is essential for informing decision-makers in drug development on the appropriateness of initiatives aimed at developing precision medicine therapies and is instrumental in implementing disease-specific registries and natural history studies.
Authors
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Elena Parrini (ORCID: https://orcid.org/0000-0001-8933-7694)
- Francesca Ragona (ORCID: https://orcid.org/0000-0003-1399-8271)
- Grazia Annesi (ORCID: https://orcid.org/0000-0001-9951-8798)
- Simone Gana (ORCID: https://orcid.org/0000-0001-6544-7135)
- Mario Mastrangelo (ORCID: https://orcid.org/0000-0001-7664-5807)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Claudio Zucca (ORCID: https://orcid.org/0000-0001-7621-2542)
- Maria Luigia Gambardella (ORCID: https://orcid.org/0000-0002-4132-6221)
- Massimo Carella (ORCID: https://orcid.org/0000-0002-6830-6829)
- Alberto Cossu (ORCID: https://orcid.org/0000-0002-3462-1695)
- Marina Trivisano (ORCID: https://orcid.org/0000-0002-9841-8581)
- Angela De Dominicis (ORCID: https://orcid.org/0000-0002-8526-1511)
- Antonio Gambardella (ORCID: https://orcid.org/0000-0001-7384-3074)
- Antonella Riva (ORCID: https://orcid.org/0000-0001-9152-5571)
- Barbara Castellotti (ORCID: https://orcid.org/0000-0002-9098-3041)
- Sabrina Giglio (ORCID: https://orcid.org/0000-0002-3954-326X)
- G. D’Orsi (ORCID: https://orcid.org/0000-0002-3465-7540)
- Davide Mei (ORCID: https://orcid.org/0000-0001-6790-6251)
- Simona Balestrini (ORCID: https://orcid.org/0000-0001-5639-1969)
- Elisabetta Cesaroni (ORCID: https://orcid.org/0000-0002-7177-4500)
- Raffaella Minardi (ORCID: https://orcid.org/0000-0002-8190-8517)
- Maria Teresa Bassi
- Nicola Specchio (ORCID: https://orcid.org/0000-0002-8120-0287)
- Laura Tassi (ORCID: https://orcid.org/0000-0002-0632-7296)
- Dario Pruna (ORCID: https://orcid.org/0000-0001-8395-8326)
- Jacopo Proietti (ORCID: https://orcid.org/0000-0002-5584-4724)
- Ilaria Contaldo (ORCID: https://orcid.org/0000-0002-6795-9641)
- Valentina De Giorgis (ORCID: https://orcid.org/0000-0002-5828-7070)
- Gaetano Cantalupo (ORCID: https://orcid.org/0000-0003-1343-8434)
- Laura Licchetta (ORCID: https://orcid.org/0000-0001-7979-9895)
- Luigi Vetri (ORCID: https://orcid.org/0000-0002-0121-3396)
- Maurizio Elia (ORCID: https://orcid.org/0000-0002-0414-1359)
- Francesco Pisani (ORCID: https://orcid.org/0000-0001-6658-4836)
- Carla Marini
Institutions
- University of Verona (IT)
- Marche Polytechnic University (IT)
- University of Pavia (IT)
- Casa Sollievo della Sofferenza (IT)
- Policlinico Umberto I (IT)
- Istituto Giannina Gaslini (IT)
- Agostino Gemelli University Polyclinic (IT)
- Magna Graecia University (IT)
- Oasi Maria SS (IT)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
- ATS Sardegna (Italy) (IT)
- Meyer Children's Hospital (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Institute for Biomedical Research and Innovation (IT)
- IRCCS Eugenio Medea (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- National Research Council (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Florence (IT)
- University of Genoa (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1136/jmg-2024-110328
- Citations
- 7
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.85
Funders
- Ministero della Salute
- Regione Toscana
- Fondazione Cassa di Risparmio di Firenze
- Ministero dell'Università e della Ricerca