Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

PRRT2基因突变携带者阵发性运动障碍

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Abstract

BACKGROUND: Paroxysmal movement disorders are rare and heterogeneous genetic conditions characterized by the recurrence of transient involuntary movements. PHENOMENOLOGY SHOWN: The phenomenology of a paroxysmal kinesigenic dyskinesia in a young professional athlete. EDUCATIONAL VALUE: Providing basic clinical and genetic elements for the early recognition and diagnosis of a rare movement disorder.

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