KCNC1 encodes a voltage-gated potassium channel Kv3.1 that is predominantly expressed in fast-spiking neurons which include GABAergic interneurons, Purkinje cells and neurons in central auditory nuclei.
Main clinical features:
Pathogenic variants in KCNC1 have been associated with diverse phenotypes including progressive myoclonus epilepsy with ataxia (MEAK-Syndrome; Myoclonus and Ataxia due to Potassium channel mutation), non-progressive myoclonus alone, intellectual disability, and developmental and epileptic encephalopathy with myoclonic, absence and generalized seizures – see clinical characteristics.
Inheritance:
KCNC1-related disorders are inherited in an autosomal dominant manner. In the vast majority, the disease-causing variant was found de novo in the affected patients. Both maternal and paternal inheritance from affected parents as well as germline mosaicism have been reported.
KCNC1