Loading your page…
Journal of Clinical Medicine
By Lisandra Coneglian Farias Rigoldi, Daniel Almeida do Valle, Mayla Cristine de Souza and 4 others.
Ward brings these articles into the same app as your cards and questions. One free account for Ward, Suture, Osler and Prognia.
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.
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.
The median age at seizure onset was 4 months and at diagnosis 42 months; the median individual onset-to-diagnosis interval was 29 months (range, 4–283; n = 14). All patients received polytherapy; 51.9% used cannabidiol, 40.7% vagus nerve stimulation, and 7.4% fenfluramine. Only 2/20 patients (10.0%) achieved ≥6-month and 1/20 (5.0%) ≥ 12-month seizure freedom. All six patients seizure-free in the previous month were receiving valproate, a descriptive finding likely reflecting confounding by indication. Recorded comorbidities, mainly autism spectrum disorder (29.6%), were likely underestimated in the absence of systematic neurodevelopmental assessment.
This Brazilian DS cohort showed marked diagnostic delay, high seizure burden, and limited access to DS-specific therapies. These findings support earlier genetic testing and broader access to recommended treatments and generate hypotheses for larger prospective studies.
Published in Journal of Clinical Medicine. The abstract is shown as published and remains the work of its authors; read the full article at the source.
Prognia lists this article for reference and education. It is not medical advice. Always read the original and follow current guidelines and local protocols before acting on it.
