Optimizing Early Diagnosis and Therapy Utilization in Dravet Syndrome
M. Scott Perry, MD, and James Wheless, BScPharm, MD, FAAP, FACP, FAAN, FAES, FCNS, discuss how early genetic testing for SCN1A variants enables prompt diagnosis of Dravet syndrome, allowing clinicians to optimize treatment with newer targeted therapies such as stiripentol, fenfluramine, and cannabidiol, while avoiding contraindicated sodium channel blockers to improve seizure control and long-term outcomes.
EP. 1: Symptoms and Disease Progression in Pediatric Patients With Dravet Syndrome
August 7th 2025Panelists discuss how early recognition of Dravet syndrome's key clinical features—including prolonged seizures triggered by fever or illness in the first year of life, the importance of genetic testing for SCN1A variants, and the progressive nature of the condition that evolves from initial febrile seizures to multiple seizure types alongside developmental delays—can support timely diagnosis and improve long-term outcomes for pediatric patients.
EP. 2: Role of SCN1A Genetic Testing in Diagnosis of Dravet Syndrome
August 7th 2025Panelists discuss how SCN1A genetic testing has enabled earlier diagnosis of Dravet syndrome, though some clinicians still hesitate to order tests due to discomfort with genetics, emphasizing that early genetic confirmation is crucial for avoiding contraindicated sodium channel medications, implementing appropriate treatments, and providing families with answers and community connections that improve long-term outcomes.
