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Article

Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis

  • Authors:
    • Guo‑Hong Chen
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R. China
  • Pages: 909-912
    |
    Published online on: December 22, 2014
       https://doi.org/10.3892/etm.2014.2155
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Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were selected. Peripheral blood was drawn after obtaining informed consent, and genomic DNA was extracted by a standard protocol. Sanger sequencing was performed for the screening of PRRT2 mutations. A total of five cases were detected to harbor PRRT2 mutations. Four familial cases carried a c.649dupC (p.Arg217Profs*8) mutation, while one sporadic case and his asymptomatic father carried a c.133‑136delCCAG (p.Pro45Argfs*44) mutation. PRRT2 mutations were not identified in the remaining cases. The study further confirmed that PRRT2 was a causative gene of PKD and implied that PRRT2 mutation has incomplete penetrance.
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Copy and paste a formatted citation
Spandidos Publications style
Chen GH: Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. Exp Ther Med 9: 909-912, 2015.
APA
Chen, G. (2015). Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. Experimental and Therapeutic Medicine, 9, 909-912. https://doi.org/10.3892/etm.2014.2155
MLA
Chen, G."Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis". Experimental and Therapeutic Medicine 9.3 (2015): 909-912.
Chicago
Chen, G."Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis". Experimental and Therapeutic Medicine 9, no. 3 (2015): 909-912. https://doi.org/10.3892/etm.2014.2155
Copy and paste a formatted citation
x
Spandidos Publications style
Chen GH: Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. Exp Ther Med 9: 909-912, 2015.
APA
Chen, G. (2015). Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. Experimental and Therapeutic Medicine, 9, 909-912. https://doi.org/10.3892/etm.2014.2155
MLA
Chen, G."Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis". Experimental and Therapeutic Medicine 9.3 (2015): 909-912.
Chicago
Chen, G."Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis". Experimental and Therapeutic Medicine 9, no. 3 (2015): 909-912. https://doi.org/10.3892/etm.2014.2155
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