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About SCN8A
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What is SCN8A?
The SCN8A gene encodes a voltage-gated sodium channel known as NaV1.6 that plays an important role in regulating excitability in the brain. When working properly, the NaV1.6 channel permits sodium ions to enter into the neuron, thus allowing an action potential to fire along the neuron. Genetic mutations or variants in the SCN8A gene can lead to altered sodium flow—excess or reduced excitation—resulting in epilepsy of varying severity and related disorders.
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. If you choose to be a part of this site, not only are you helping others in the SCN8A community, you're also 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.
The SCN8A Interactive Website
The goal of the SCN8A interactive website is to make available the latest information about the clinical features, causes, and treatments of SCN8A epilepsy and related disorders to families, doctors, and researchers.
The website provides access to public and private content that informs families and doctors about the efficacy of current medications, as well as new treatment options that are becoming available. Families that sign up for an account will be invited to tailored group discussions based on similar genetic mutations or support groups within your area. The website provides a network of doctors with experience in treating SCN8A epileptic encephalopathy, as well as a "variant look-up" so that clinicians, researchers and families can check whether a variant of interest is present in our curated database of SCN8A variants.
The website also hosts a portal to the SCN8A Registry Research Study, which features a questionnaire tailored to collect a range of SCN8A medical and genetic data from each participant (e.g., genetic variants, clinical features, developmental history, current medications, brain scans and electroencephalograms, etc., from each participant). Researchers and medical experts analyze data from the Registry Research Study questionnaire to accelerate progress in understanding the causes and consequences of SCN8A-related disorders.
The ultimate purpose is to help advance SCN8A research and accelerate the pace of translating discoveries in the laboratory to benefit children, families, and doctors.
What is the purpose of this Website?
  • A registry for SCN8A families.
  • An up-to-date compilation of genetic variations in the SCN8A gene that alter the expression or function of Nav1.6.
  • An up-to-date compilation of the phenotypes associated with each patient and each mutation in the SCN8A gene.
  • Access to a Research study involving the collection of data from SCN8A families.
  • Information on current and new medications.
  • A professional network for doctors treating patients with SCN8A epilepsy.
  • A list of publications of the relevant scientific literature.
  • Relevant media links and stories of the people and science surrounding SCN8A research.
Staff Members
Michael Hammer
Michael Hammer
I am a researcher at the University of Arizona specializing in human genetics. In 1996, my beautiful daughter Shay was born. We soon found out that Shay suffered from a rare and undiagnosed epilepsy syndrome. It took 15 years before we discovered the cause of Shay's epilepsy--thanks to some dedicated researchers in my lab we found a mutation in the SCN8A gene. Now we know that mutations in SCN8A are the cause of seizures and developmental difficulties in many children.
Our goal is to gather as much medical and genetic information as we can to help doctors and researchers find new treatments for this devastating disorder. The SCN8A Community Website and Registry represent the fruits of labor of many devoted people, and it offers us all the opportunity to participate in an concerted effort to improve the lives of our children and our families.
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© 2021 SCN8A Shay Emma Hammer Research Foundation. All rights reserved.
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