Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-5.
For instance, PRRT2 was identified by Chinese neurologists as the causative gene of paroxysmal kinesigenic dyskinesias (PKD) as well as other paroxysmal dyskinesias.,, While genetic etiology may not show great differences in movement disorders of Chinese from other ethnic groups, abundance of patient resources would facilitate the identification of novel pathogenic genes.
UDSC-derived disease-specific iPSCs have already been established in cardiac diseases , endocrine diseases [41, 42], abnormal hemorrhagic diseases resulting from various causes [43-45], aneuploidy diseases such as Down syndrome , neural diseases [47, 48], muscular disorders [49, 50], fibrodysplasia ossificans progressiva [51, 52], systemic lupus erythematosus , cryptorchidism , hypercholesterolemia , paroxysmal kinesigenic dyskinesia , and so on (Table 1).
Wu, "Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia," Biology Open, vol.
Paroxysmal kinesigenic dyskinesia
is a good example of a condition that can mimic epilepsy.
Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia
. Parkinsonism Relat Disord 2014;20:353-4.
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by recurrent dystonic or choreoathetoid attacks triggered by sudden voluntary movements.
Paroxysmal kinesigenic dyskinesia (PKD; MIM: 128200) is a movement disorder characterized by transient and recurrent dystonic or choreoathetoid attacks mainly triggered by sudden voluntary movements.[sup] PKD is commonly a familial disease in an autosomal dominant mode of inheritance.
Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene.
Paroxysmal kinesigenic dyskinesia (PKD) is an episodic movement disorder characterized by recurrent and brief attacks of involuntary movements or dystonia, without alteration of consciousness.[sup] Attacks are usually triggered by sudden movement or change in velocity, presenting with choreoathetosis, dystonia, or ballism.[sup] Neurological examinations between attacks usually disclose no remarkable findings.
PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.