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About SCN8A
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What is SCN8A?
SCN8A is a gene that encodes a voltage-gated sodium channel. SCN8A is a gene that plays an important role in regulating excitability in the brain. The gene makes a protein product called a voltage-gated sodium channel. When working properly, this kind of channel permits sodium ions to enter into the neuron, thus allowing an action potential to fire along the neuron. When there is a mutation in the SCN8A gene, this can lead to altered sodium channel function, too much excitation and epilepsy.
What We Do 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 epileptic encephalopathy to families, doctors, and researchers.
The website also hosts an SCN8A registry that serves to collect and curate patient clinical and genetic data (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 to accelerate progress in understanding the causes and consequences of SCN8A-related disorders.
The website also informs families and doctors about the efficacy of current medications, as well as new treatment options that are becoming available. 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 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.
  • 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.
Aurora Hurtado
Aurora Hurtado
I am a Family Research Coordinator for the SCN8A Community. I was introduced to the SCN8A mutation while doing undergraduate research and quickly became passionate about the impact our research was having. I have been conducting studies on genetically engineered mice with the SCN8A mutation since 2017. The courage and strength these children are facing inspires me to find a novel treatment to improve their quality of life.
Vern Pilling
Vern Pilling
I am Director of the Department of Biomedical Informatics Services for University of Arizona Health Sciences in the Center for Biomedical Informatics & Biostatistics. I first started working with Dr. Hammer and his team in late 2014. As the website progressed I was very moved by Dr. Hammer’s very personal connection to this research. As a dad, I wanted to provide whatever expertise I could to help connect the patients with researchers. My hope and prayer is that one day no child will ever suffer the devastating effects of SCN8A because of the efforts of this dedicated team of professionals.