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About Us

 
 
 

The SCN8A Interactive Website

The goal of the SCN8A interactive website is to make available the lastest information about the clinical features, causes, and treatments of SCN8A epileptic encephalopathy to families, doctors, and researches.

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 will analyze data from the registry to accelerate progress in understanding the causes and consequences of SCN8A epilepsy. The ultimate purpose is to help advance SCN8A research and speed the pace of translating discoveries in the laboratory to benefit children, families, and doctors.

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 has a forum for families to communicate with each other, and provides a network of doctors with experience in treating SCN8A epileptic encephalopathy. 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 will analyze data from the registry to accelerate progress in understanding the causes and consequences of SCN8A epilepsy. The ultimate purpose is to help advance SCN8A research and speed the pace of translating discoveries in the laboratory to benefit children, families, and doctors. 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 has a forum for families to communicate with each other, and provides a network of doctors with experience in treating SCN8A epileptic encephalopathy.

 
 
 
 
 
 

What is SCN8A Epileptic Encephalopathy?

Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by difficult to control epilepsy beginning in infancy. According to OMIM there are over 30 different forms of EIEE, each attributed to mutations in different genes. Many of these disorders lead to global developmental delays, motor and speech deficits, intellectual disability, regression, and sometimes sudden death.

One of the most recently discovered forms of EIEE is caused by mutations in the voltage-gated sodium ion channel gene, SCN8A. Children with pathogenic mutations in this gene may suffer from early onset and intractable seizures, developmental delays, motor and speech deficits, intellectual disability, and/or host of respiratory and feeding problems. It is also believed that children and teenagers with SCN8A epilepsy are at risk for sudden unexplained death in epilepsy or SUDEP. Given the potentially severe consequences of mutations in this gene, doctors and families alike urgently seek the most effective ways to intervene.

 
 
 
 
 
 

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 social network for parents and families suffering from SCN8A epilepsy.
  • 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.
 
 
 
 
 
 

Contact

 

Dr. Michael Hammer

ARL Division of Biotechnology
Keating Building Room 111K
University of Arizona
Tucson, Arizona 85716
Email: scn8a.info@gmail.com

 
 
 

This page was last modified on: 5/16/2016 12:52:33 PM