Journal of Clinical Medicine
Clinical and Therapeutic Profile of Dravet Syndrome in Patients Followed at a Brazilian Pediatric Referral Center: Real-World Data from a Tertiary Service
By Lisandra Coneglian Farias Rigoldi, Daniel Almeida do Valle, Mayla Cristine de Souza and 4 others.
Abstract
Background
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, and data from low- and middle-income countries remain scarce. We characterized the clinical, genetic, and therapeutic profiles of patients with DS at a Brazilian tertiary referral center.
Methods
This retrospective cross-sectional study included 27 patients with clinically and genetically confirmed DS (pathogenic/likely pathogenic SCN1A variants). Outcomes were ≥6-month and ≥12-month seizure freedom and seizure control in the previous month, described by treatment exposure without inferential testing.