KCNC1-related disorder is inherited in an autosomal dominant manner.
People have two copies of most genes, one copy inherited from each parent. For the autosomal dominant disorder, only one of the two copies of the gene need to have a defective change.
• In most cases, the gene variants occurred de novo which means that the affected individuals had sporadic variants that was not present in the healthy parents.
• It can also be inherited from an affected parent.
• Germline mosaicism in healthy parents has also been reported, which means that some sperm or eggs have a KCNC1 variant that may not be present in other parts of the body
The exact pathomechanism is yet unclear.
Both loss-of-function (no protein expression or no function) and dominant-negative loss-of-function (the mutant protein reduces the activity of the healthy protein) have been mostly described as possible pathomechanisms for KCNC1-disorders.
KCNC1