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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report

Distal Deletion, Proximal Deletion,

All,

This case report shows that a rare but very treatable movement disorder, paroxysmal kinesigenic dyskinesia (sudden brief movement episodes), can be caused by a 16p11.2 microdeletion, reminding families that new movement symptoms in someone with 16p11.2 may have a clear genetic explanation and can often improve significantly with the right medication.

Brain, Cognitive Impact, Genetics, Motor Coordination, Motor Speech, Neuromuscular,