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 characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.
A registry for Dravet syndrome: The Italian experience / Simona Balestrini, V.D., Residras Collaboration Group, Serena Pellegrin, T.L.B.. - In: EPILEPSIA OPEN. - ISSN 2470-9239. - ELETTRONICO. - (2023), pp. 0-0. [10.1002/epi4.12730]
A registry for Dravet syndrome: The Italian experience
Simona Balestrini;Ersilia Lucenteforte;Simona Pellacani;Renzo Guerrini
2023
Abstract
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 characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.
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Epilepsia Open - 2023 - Balestrini - A registry for Dravet syndrome The Italian experience.pdf
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