About SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE)1
A mutation in the SCN8A gene can lead to epilepsy and seizures. The most common seizure types that occur with this mutation include tonic-clonic seizures (the muscles stiffen, and jerking movements are seen2), myoclonic seizures (brief, shock-like jerks to a muscle3), and absence seizures (lapse of awareness4). Tonic seizures (where the body stiffens for a short period of time), atonic seizures (where the body goes limp for a short period of time and falls can occur), and focal (a.k.a. partial) seizures can also occur. The seizures that occur with SCN8A-DEE can be frequent, can occur multiple times a day, and are often resistant to treatment. This is why clinical trials and participant volunteers are important to finding potential new treatment options.