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A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.

Molecular genetics & genomic medicine - 1 May 2024

Wen Min, Huang Hui, Huang Fei, Xu Ru, Zhang Jing, Fan Jia-Geng, Zeng Jun, Jiang Kai-Wen, Liu Ding, Huang Hua-Lin, He Qing-Nan

Abstract excerpt

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most prevalent kind type of paroxysmal Dyskinesia, characterized by recurrent and transient episodes of involuntary movements. Most PKD cases were attributed to the proline-rich transmembrane protein 2 (PRRT2) gene, in which the c.649 region is a hotspot for known mutations. Even though some patients with PKD have been genetically diagnosed using...

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PMID: 38778723
DOI: 10.1002/mgg3.2469
PMCID: PMC11112295

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