Characterization of the Diagnosis and Treatment of Phenotypes Related to Dravet Syndrome Determined by Pathogenic Variants of SCN1A

• Grant number: 24/16919-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2025
• End date: January 31, 2026
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Kette Dualibi Ramos Valente
• Grantee: Bárbara Fialho Caetano da Silva
• Host Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Dravet Syndrome (DS) is a classic example of epileptic and developmental encephalopathy, the etiology of which is determined by pathogenic variants in the SCN1A gene. There are drugs that can significantly impact the course of the disease and potentially help prevent or reduce the negative impacts of this syndrome on the quality of life of patients and their families. Major advances have been made recently in molecular markers for diagnosis, better treatment options for early intervention, formulations suitable for childhood and preparations for more convenient administration to acutely manage prolonged epileptic seizures. Despite the importance of all these advances in improving the care of children and adults with DS, in Brazil, patients still find it difficult to access certain medications and treatments for the disease. Furthermore, the country still lacks a Clinical Protocol and Therapeutic Guidelines for epilepsies of unknown origin, which would allow for genetic research and early diagnosis. In order to describe the follow-up and care of patients with DS in Brazil, this study will evaluate a cohort of patients with genetically confirmed DS. The aim is to outline practices relating to the diagnosis and treatment of epilepsy and DS comorbidities. To this end, an online survey will be developed to collect information from family members of the Brazilian Dravet Association, including characteristics related to epilepsy and comorbidities.