episodic kinesigenic dyskinesia type 1

episodic kinesigenic dyskinesia type 1

An autosomal dominant neurologic disorder (OMIM:128200) of childhood to early adulthood onset, which is characterised by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement, and may be accompanied by dystonia, chorea or athetosis.
 
Molecular pathology
EKD1 is caused by truncation type mutations of PRRT2 on chromosome 16p11.2.
Mentioned in ?