Exciting Progress in SCN8A Research: Positive Initial...
SCN8A Financial Support & Resource Center
Early diagnosis is essential for effectively managing SCN8A-related conditions. Timely and accurate genetic testing can greatly improve outcomes for children with SCN8A epilepsy. Advanced genetic tests, such as gene panels and exome/genome sequencing, play a crucial role in early identification, helping guide treatment and care. Explore the resources and guidelines below to support your journey.
Key Points
Understanding Variants
Knowing whether an SCN8A variant is a gain-of-function or loss-of-function is important for determining treatment and anticipating symptoms. a variant at SCN8A.net.
Recommended Genetic Testing
Familial Testing and Counseling
Collaborating For A Cure
Bringing Improved Quality of Life
As leaders in SCN8A research, we bring the latest data directly to families and doctors around the globe.
Advancing Research
The International SCN8A Registry is the most comprehensive repository of caregiver reported SN8A data. We also produced the first-ever Consensus on the Diagnosis and Treatment of SCN8A as a baseline standard of care.
Strategic Advocacy
Through our tireless efforts to bring awareness to SCN8A and other rare epilepsies we helped form and run the Epilepsies Action Network, working to raise awareness of and funding for the rare epilepsies.
Family First
We put SCN8A families first in all that we do. Our mission is to bring improved quality of life to everyone with SCN8A until we ultimately find a cure.
See The Good We've Done With Your Help!
Because of support from individuals and our industry partners, we are able to bring life changing information directly to SCN8A families.
SCN8A Family Meetings provide a place for families to connect, share tactics and strategies, and ask questions directly to renowned geneticist Dr. Michael Hammer.
Take Action Today To Make Life Better Tomorrow
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