Paroxysmal kinesigenic dyskinesias are often inherited in an autosomal dominant fashion and several genes have now been identified where mutations can cause this disease. The genes typically code for proteins known to be involved in synaptic transmission, ion channels or ion transporters. The first gene to be identified was the PRRT2 gene on chromosome 16, found in 2011 to be the cause of the disease in some patients. The mutations in this gene included a nonsense mutation identified in the genome of one family and an insertion mutation identified in the genome of another family. Researchers found PRRT2 mutations in 10 of 29 sporadic cases affected with PKD, thus suggests PRRT2 is the gene mutated in a subset of PKD and PKD is genetically heterogeneous. Later reports have identified the genes SCN8A, CHRNA4, and SLC16A2 as further causes of PKD.
Paroxysmal kinesigenic choreoathetosis
Pseudoathetosis
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal exercise-induced dystonia
Dopamine-responsive dystonia
Paroxysmal dyskinesia
Paramyotonia congenita
Myoclonic dystonia