A registry for Dravet syndrome: The Italian experience

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 are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow‐up update. Median age at first clinical assessment was 2 years (IQR 0–9) while at last follow‐up was 11 years (IQR 5–18.5). During the 7‐year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000‐person‐years. When analyzing clinical changes over the first 5‐year follow‐up, we observed a significant difference in cognitive function (P