Kcnq2 Cure Alliance Inc

KCNQ2 is a recently-discovered and rare form of epileptic encephalopathy diagnosed in fewer than 200 patients to date. Improved awareness, identification of patients, and increased support for research are important factors in our efforts to improve treatments and outcomes for patients affected by KCNQ2 encephalopathy.

Mutations in the KCNQ2 gene are involved in early-onset epileptic encephalopathy (EOEE), a severe condition characterized by epilepsy and profound intellectual disability. The seizures begin in the first weeks of life and typically show little response to treatment. They usually go away in a few months to a few years but can return later in childhood. Most affected individuals are unable to talk, and they have low muscle tone (hypotonia) or very stiff muscles, causing difficulty with movement.

Our children are unable to communicate, please help us give them a voice and please help us find a cure.