Seizures: Patients present with seizures that often begin in the first few days of life, vary in type, and are persistent.
Intellectual Disability: Patients often experience intellectual disability, but it can range from mild to severe.
SLC6A1 epileptic encephalopathy is suspected based on symptoms but confirmed through genetic testing that identifies a mutation in one copy of the SLC6A1 gene.
Currently there is no cure for SLC6A1 epileptic encephalopathy. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for SLC6A1 epileptic encephalopathy.
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.