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 characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.

Methods

Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included.

Results

At present, 281 individuals with DS and a confirmed SCN1A mutation

SUBMITTER: Balestrini S 

PROVIDER: S-EPMC10235582 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature