SCN8A Community: Support, Advocacy, and Research


SCN8A.net offers a new vision for helping those living with, treating and/or researching SCN8A, facilitating communication among families, physicians and scientists. If you choose to be a part of this site, not only are you helping others in the SCN8A community, you're helping to build a new model for advancing support, knowledge and care for a variety of diseases worldwide. Together we will advance knowledge of the causes, consequences, and treatments of SCN8A-related disorders.

SCN8A Registry Program

Become a Member

 

Create your account and then sign up with a membership form to gain access to the private sections of the website and family forum. Members also get access to the SCN8A Registry.

Join SCN8A Registry Program

 

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!

The Importance of a Registry
 

There is no better way to support cutting edge research than by providing basic and vital data about our children, their medical and developmental history, and the medications that seem to help or to hurt them. This kind of data is the essential foundation of SCN8A research. By participating in the SCN8A Registry, we can all play an important role in better understanding how different mutations alter SCN8A function and lead to the widely varying clinical features among our children.

Latest Information for

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 private/public discussion forum and share your story. You'll also find information about developments in 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 or access tables on all known variants and phenotypes, shared as part of the REGISTRY to advance understanding of this devastating disorder. Please also consider sharing pre-publication material or unpublished data to build the most comprehensive knowledge base on SCN8A epileptic encephalopathy.

A note from Dr. Hammer

Dear Families,

Aside from being a research scientist specializing in genetics, like many of you I am a parent of a child with an SCN8A mutation. While each of our journeys is unique in many ways, we all have shared the horror of not being able to “fix” the terrible burden this mutation places on our children and our families. And most of us share the frustration that so few doctors understand the nature of the disorder or how to effectively treat our children.

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This page was last modified on: 12/12/2017 7:54:57 AM