Frequently Asked Questions
Clear, clinically-backed answers to help families and providers navigate the complexities of SCN1A Gain-of-Function.
While both are caused by mutations in the SCN1A gene, their biological mechanics are exact opposites.
Dravet Syndrome is caused by a "Loss of Function" (LoF), meaning the sodium channels in the brain are broken or locked closed, leading to a lack of regulation. Gain of Function (GoF) means the sodium channels are overactive or "stuck open," flooding the brain with too much electrical activity.
This distinction is critical because the treatments used to help Dravet patients can cause severe harm to GoF patients.
Because GoF symptoms often appear within the first 0-3 months of life (much earlier than typical Dravet), neonates are highly vulnerable to being placed on incorrect, standard epilepsy protocols.
Advocating for Rapid Whole Exome Sequencing (rWES) in the NICU is the only way to quickly identify the mutation and mechanically differentiate the child, allowing neurologists to prescribe the correct targeted therapy.
Our Year 1 roadmap is focused entirely on Seed Funding. We operate as a venture-philanthropy organization, raising initial capital to sponsor independent institutional grants.
By providing the early funding needed for institutions (like CHOP) to gather pilot data on GoF mechanisms, we help them unlock multi-million dollar federal grants from the NIH. You can help us reach our goals by making a donation here.
The most important thing a family can do right now is join our Patient Network. Because GoF is ultra-rare, organizing our community is critical.
By connecting with us and sharing your child's symptom timeline and medication responses, you help us build the real-world database that researchers desperately need for clinical trials. Contact our leadership team to get connected.