A registry for Dravet syndrome: The Italian experience

Abstract Objectives We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main...

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Bibliographic Details
Published in:Epilepsia Open
Main Authors: Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Format: Article
Language:English
Published: Wiley 2023-06-01
Subjects:
epilepsy syndrome
natural history
rare disease
registry
SCN1A
Online Access:https://doi.org/10.1002/epi4.12730

Internet

https://doi.org/10.1002/epi4.12730

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