Abstract:Introduction:
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in
PRRT2
are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have
PRRT2
mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with
POLG
varian… Show more
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