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 decade, we have made incredible strides in better understanding SCN8A.
We have come to understand that SCN8A can vary wildly – some kids develop more typically (rarer) while others struggle with developmental delays and physical challenges. A few never have seizures, many have refractory epilepsy (hard to treat). 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 from our network meetings with you. Your input is invaluable to improving understanding of the disease and its course.
Learn about SCN8A 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.