Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

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Researchers identified the PRRT2 gene, located in the 16p11.2 proximal region, as the cause of paroxysmal kinesigenic dyskinesias (sudden, brief episodes of involuntary movement triggered by motion), which is relevant to families with proximal 16p11.2 deletions or duplications that include this gene.