For nearly 25 years now we have known that mutations in the sodium channel gene, SCN1A, can lead Dravet syndrome and related epilepsies. Since the initial discovery, over 1,700 unique mutations occurring across the length of the large SCN1A gene have been identified in patients with Dravet syndrome. The awareness and availability of genetic testing has allowed for earlier identification of patients, improving clinical care. Additionally, understanding of the genetic cause has led to impressive research advancements. Now in 2025 there are two genetic-based therapies being tested in clinical trials for the treatment of Dravet syndrome, exemplifying how quickly advancements are happening.
All of this incredible progress means there is also a lot of complex information to navigate. DSF keeps a variety of curated resources to help the community stay educated and up-to-date on the most current information.
We recently updated our webpage outlining what is known about the genetics of Dravet syndrome including answers to frequently asked questions, details about mutation types, tips on navigating a genetic report and understanding genetic terminology, and even a deeper dive into the biology of how mutations may affect the ability of neurons in the brain to communicate.
Other Related Resources:
- Join the community effort to advance our understanding of Dravet syndrome and genetics! More information and details of how to participate in the Dravet Genome Study can be found at this webpage.
- A written overview of progress towards a genetic therapy for Dravet syndrome
- Currently enrolling clinical studies and an overview of therapies in development for Dravet syndrome can be found at this DravetClinicalTrials.org
- A 2024 conference presentation on the current state of our genetic understanding of Dravet syndrome
- A 2024 conference presentation on the basic concepts and current state of genetic therapy development for Dravet syndrome
Questions?
Email DSF’s Scientific Director, Veronica Hood, PhD
