Currently, there is no known causal treatment for KCNC1-related disorders. Close monitoring and care by multidisciplinary team comprising pediatrician, neurologists with expertise in epileptology and movement disorders and physiotherapist may be essential.
Special attention should be given to:
• Speech and language development
• Motor development
• Seizures (EEG examinations after diagnosis and after suspected seizure episodes)
• Regular neurologic evaluation
• Gait/motor difficulties
Genetic counselling is recommended prior to family planning and for the evaluation of further relatives at risk:
• Each child of an individual with a pathogenic KCNC1 variant has a 50% chance of inheriting the pathogenic variant.
• The penetrance has so far been reported as 100% for currently known variants (see molecular characteristics), therefore, it is highly likely that a heterozygous child of an individual with a KCNC1-related disorder will develop a similar phenotype.
• If the pathogenic variant occurred de novo in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is low (<1%) – in case of germline mosaicism the risk may be higher (up to 50%)
• Prenatal diagnosis is possible, if requested by the parents.
KCNC1