Seizures: Tonic seizures occur many times a day and are difficult to treat. Seizures in most patients resolve within months or years.
Developmental Delays: Many patients with KCNQ2 experience developmental impairments that can range from mild to severe.
KCNQ2 encephalopathy is suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the KCNQ2 gene.
Currently, there is no cure for KCNQ2 encephalopathy. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for patients with KCNQ2 encephalopathy. There are currently companies investigating treatments for KCNQ2 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.