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Article

[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2017

Zhu Xiao-Ming, Gong Yu-Hong, Lu Si, Cheng Shou-Chao, Yao Bao-Zhen

Abstract excerpt

The clinical manifestations of five children with paroxysmal kinesigenic dyskinesia (PKD) were retrospectively analyzed and their gene mutations were analyzed by high-throughput sequencing and chromosome microarray. The 5 patients consisted of 4 males and 1 female and the age of onset was 6-9 years. Dyskinesia was induced by sudden turn movement, scare, mental stress, or other factors. These patients were...

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Identifiers

PMID: 29132464
PMCID: PMC7389325

Genes

PRRT2

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