What is SCN8A
SCN8A is a gene that encodes a voltage-gated sodium channel that plays an important role in regulating excitability in the brain.
What We Do
SCN8A.net offers a new vision for helping those living with, treating and/or researching SCN8A, facilitating communication among families, physicians and scientists.
How to Become a Family Member and Get Access to the SCN8A Registry Questionnaire
1
Family Membership Form
If you are a caregiver or patient, please fill out the Family Membership Form. If you don’t have your SCN8A mutation information, please contact us at scn8a.info@gmail.com.
2
Email Notification
Once you have submitted the Family Membership Form, you will receive an email notification indicating your membership status.
3
SCN8A Registry Questionnaire
Click the “Go to Registry Questionnaire” button to get to the REDCap SCN8A Registry Questionnaire. The first page is a Consenting Statement. If you agree with the Consenting Statement, click “Agree” and you will be taken to the Registry Questionnaire. Fill out the questionnaire and help us reach our goal of registering 1,000 participants. Contact us at scn8a.info@gmail.com with any questions.
How You Can Help!
Become a Member
Create your account and then sign up with a membership form to gain access to the private sections of the website. Family members get access to the SCN8A Registry, while researchers and clinicians get access to our database of variants and other information.
Register
SCN8A Registry
Our team has tailored the SCN8A Registry Questionnaire to better meet the needs of our children, and to address the increasing diversity of our SCN8A community. Please take the single most important step you can to advance the scientific understanding of SCN8A—and fill out the new questionnaire, which is now available in the Registry section of the website!
Learn More
Donate
Thank you for your contribution to support families, researchers, and doctors that are working to improve the lives of children with SCN8A-related disorders.
Donate
Features of the Website
Families
Much of what we know about SCN8A has come from families openly sharing their experiences with this disorder. We invite you to explore our public pages as well as pages that are restricted to those with a family/caregiver account. You will find information about developments in the science of SCN8A, medications and treatment options, what to ask your doctor, and more.
Doctors
SCN8A-related disorders can be very difficult to manage, even for physicians familiar with other forms of epilepsy. For medical professionals, we offer current information on the genetics of SCN8A, clinical variability among children with 8A mutations, a directory of doctors and genetic counselors, a lab directory, and other resources.
Researchers
Learn about a specific gene variant using our variant look-up, or access full tables of all SCN8A variants in our curated SCN8A using your researcher account. Please also consider sharing pre-publication material or unpublished data to build the most comprehensive knowledge base on SCN8A-related disorders.
You can help advance the scientific understanding of SCN8A by supporting the Registry.