A Novel Therapeutic Intervention Of Dravet Syndrome

Dravet syndrome (DS) is a catastrophic pediatric epilepsy characterized by severe drug-resistant seizures, intellectual disability, autistic traits, movement disorders and increased risk of sudden death. Most DS cases are due to mutations in an ion channel known as Nav1.1 (gene named SCN1A) that is found in neurons responsible for calming brain activity. In DS, the aberrant function of these neurons leads to increased brain excitability and seizures. We have identified compounds that enhance Nav1.1 function in order to control seizures, and we aim to develop these molecules as therapies. This project has the potential to revolutionize the treatment of DS and related epilepsies.