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.