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Article

Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Journal of neurology - 1 Sept 2022

Liu Xiaoli, Ke Huiyi, Qian Xiaohang, Wang Shige, Zhan Feixia, Li Ziyi, Tian Wotu, Huang Xiaojun, Zhang Bin, Cao Li

Abstract excerpt

BACKGROUND: Mutations in PRRT2 and 16p11.2 microdeletion including PRRT2 have been identified as the pathogenic cause of paroxysmal kinesigenic dyskinesia (PKD). OBJECTIVE: The objective was to investigate the clinical and genetic features of PKD and to analyze the genotype-phenotype correlation. METHODS: We recruited PKD patients, recorded clinical manifestations, and performed PRRT2 screening in 150 PKD...

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PMID: 35428900
DOI: 10.1007/s00415-022-11103-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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