Seizures: Seizures typically begin by age 18 months. The type of seizures that present and the severity of seizures is variable.
Developmental Delays: Many patients with SCN8A related epilepsy have delays achieving developmental milestones or may lose previously acquired skills.
SCN8A related epilepsy is suspected based on symptoms but is confirmed through genetic testing that identifies a mutation in the SCN8A gene.
Currently there is no cure for SCN8A related epilepsy. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for patients with SCN8A related epilepsy. There are currently companies investigating treatments for SCN8A related epilepsy.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.