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GENATLAS PHENOTYPE
last update : 26-01-2012
Symbol EKD1
Location 16p11.2
Name episodic kinegenic dyskinesia 1
Other name(s)
  • dystonia, familial paroxysmal 10
  • paroxysmal kinesigenic choreoathetosis 2
  • paroxysmal kinegenic dyskinesia
  • Corresponding gene PRRT2
    Other symbol(s) PKC, DYT10, PKD
    Main clinical features
  • paroxysmal movement disorder characterized by recurrent and brief attacks
  • of unilateral or bilateral involuntary movements, including dystonic posturing, chorea, athetosis, and ballism, which are precipitated by the sudden onset of movement
  • recurrent, brief attacks of involuntary movements induced by sudden volontary movements, overlapping the ICAA interval and likely allelic, considering that some patients have a history of infantile afebrile convulsions
  • no loss of consciousness during these attacks, the attacks are responsive to anticonvulsants such as carbamazepine, or phenytoin; (EEG) analysis
  • demonstrates normal or nonspecific abnormalities
    Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)