What is SCN8A Epilepsy?
SCN8A is a gene that plays a critical role in regulating excitability (response to a stimulus) in the brain. When there is a mutation in the SCN8A gene, this can lead the sodium channel (which allows sodium in/out) to malfunction and cause too much excitation leading to seizures/ epilepsy.
While we still have so much to learn, over the last five years, we have made some great strides in better understanding SCN8A.
What we have come to understand is that SCN8A can vary wildly - some kids develop at grade level (more rare) and other struggle with developmental delays and physical challenges. What we are learning from the registry, that families are filling out, is invaluable to our understanding of the disease and its course.
Declan - one of our beautiful
SCN8A kiddos
Learn More:
This animation shows the the structure and movements of sodium channels. As JP Johnson of Xenon puts it, this is the "view from the "side," meaning as if you were sitting in the cell membrane and looking at the channel from that perspective."
Animation courtesy of William (Bill) Catterall
To get the basics, watch this introduction to genetics and SCN8A with Dr. Michael Hammer that shares what we have learned and continue to learn from his dedicated SCN8A registry.
This video, with JP Johnson of Xenon Pharmaceuticals, explains how the channel (mis)functions and how drugs that are in development will hopefully work to correct these errors.
Learn much more at scn8a.net
Shay - first person identified with SCN8A
