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.