Only three families are currently known around the world with a KCNT2-related condition, and we are still learning more about this condition.
KCNT2-related disorder presents with seizures in the first weeks of life. Seizures can be of different types including stiffening of the body (tonic), jerking and changes in breathing or heart rate. The seizures are quite frequent (many per day) and often difficult to treat. Typically, the seizures are associated with abnormal brain wave patterns on EEG during this time. Children have some degree of developmental impairment involving one or more domains (motor, social, language, cognition). These features become present by early childhood.