Identifying Dravet Syndrome Earlier with Genetic Testing

In this episode, “Identifying Dravet Syndrome Earlier with Genetic Testing,” the panelists explore the clinical scenarios that should prompt consideration of a genetic etiology in patients with unexplained epilepsy. The discussion focuses on the evolving role of genetic testing in epilepsy care, highlighting the patient populations most likely to benefit from testing, including those with early-onset epilepsy, developmental delays, intellectual disability, autism spectrum disorder, drug-resistant seizures, and unexplained epilepsy.

Expert faculty review current guideline recommendations supporting broader use of genetic testing and discuss how advances in genomic technologies have improved diagnostic yield and expanded opportunities for precision medicine. The panel examines practical considerations for identifying patients who may have Dravet syndrome, including clinical warning signs such as prolonged febrile seizures, status epilepticus, alternating hemiclonic seizures, and seizure onset during infancy. Faculty also discuss how the presentation of Dravet syndrome may evolve over time and why earlier recognition is becoming increasingly important as disease-modifying therapies emerge.

Throughout the conversation, the panel highlights the importance of integrating genetic testing into the diagnostic evaluation of unexplained epilepsy, rather than reserving testing for patients with established drug-resistant disease. In addition, the experts review how identification of an SCN1A mutation can directly influence treatment selection, including avoidance of sodium channel–blocking antiseizure medications that may worsen outcomes in Dravet syndrome.

The next episode in this series, “Dravet Syndrome Diagnosis and the Impact of Genetic Testing in Epilepsy,” panelists will explore the role of genetic testing in establishing an accurate and timely diagnosis of Dravet syndrome. The discussion examines how genetic findings can influence treatment selection, improve care planning, and help mitigate the risks associated with delayed diagnosis.