KCNC2

Clinical Characteristics

The epilepsy in patients with a mutation in KCNC2 is very often pharmako-resistant, this means that many drugs are tried and are not helpful. The epilepsy is combined with a disturbance of intelligence and body movement. Seizure are variable from absences to focal unaware seizures, myocloni and generalized tonic-clonic seizures. There are also more milder epilepsy types described.