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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 incredible strides in better understanding SCN8A.
What we have come to understand is that SCN8A can vary wildly - some kids develop more typically (more rare) while others struggle with developmental delays and physical challenges. A few never have seizures, many have refractory epilepsy (hard to treat). Some Most kids do best on sodium channel blocker medications while a select few, do not.
There is no doubt though, that we are learning from the SCN8A Registry—which families are filling out and in our network meetings with you—is invaluable to our understanding of the disease and its course.
Declan - one of our beautiful
SCN8A kiddos
We share what we are learning from you via many channels but most in depth with our:
Partnerships
with drug companies
Research Consortium
This animation shows the structure and movements of sodium channels. This is the view from the "side," meaning it's as if you were sitting in the cell membrane and looking at the channel from that perspective."
Animation courtesy of William (Bill) Catterall
Learn More Here
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
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