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Article

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis

  • Authors:
    • Xiao‑Ying Wang
    • Bing‑Wen Ren
    • Zeng‑Hua Yong
    • Hong‑Yan Xu
    • Qiu‑Xia Fu
    • He‑Bin Yao
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China, Department of Cadres Medical Care, Chinese People's Liberation Army Navy General Hospital, Beijing 100048, P.R. China
  • Pages: 6267-6274
    |
    Published online on: August 7, 2015
       https://doi.org/10.3892/mmr.2015.4201
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Abstract

Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralysis (FHPP) pedigrees and in two thyrotoxic hypokalemic periodic paralysis (THPP) pedigrees using polymerase chain reaction, DNA sequencing and sequence alignment with GenBank data. A single base mutation from cytosine to guanine at site 1582 was identified in exon 11 of CACNA1S in one FHPP pedigree, resulting in an arginine to glycine (R528G) substitution. A single base mutation from thymine to cytosine at site 2012 was identified in exon 12 of SCN4A in one THPP pedigree, resulting in a phenylalanine to serine (F671S) substitution. No mutations in CACNA1S or SCN4A were identified in the remaining three pedigrees. The present study indicated that CACNA1S and SCN4A mutations are relatively rare in patients with HPP, and further studies are required to determine whether these mutation‑associated substitutions are representative of patients with HPP.
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Copy and paste a formatted citation
Spandidos Publications style
Wang XY, Ren BW, Yong ZH, Xu HY, Fu QX and Yao HB: Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. Mol Med Rep 12: 6267-6274, 2015.
APA
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., & Yao, H. (2015). Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. Molecular Medicine Reports, 12, 6267-6274. https://doi.org/10.3892/mmr.2015.4201
MLA
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., Yao, H."Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis". Molecular Medicine Reports 12.4 (2015): 6267-6274.
Chicago
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., Yao, H."Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis". Molecular Medicine Reports 12, no. 4 (2015): 6267-6274. https://doi.org/10.3892/mmr.2015.4201
Copy and paste a formatted citation
x
Spandidos Publications style
Wang XY, Ren BW, Yong ZH, Xu HY, Fu QX and Yao HB: Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. Mol Med Rep 12: 6267-6274, 2015.
APA
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., & Yao, H. (2015). Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. Molecular Medicine Reports, 12, 6267-6274. https://doi.org/10.3892/mmr.2015.4201
MLA
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., Yao, H."Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis". Molecular Medicine Reports 12.4 (2015): 6267-6274.
Chicago
Wang, X., Ren, B., Yong, Z., Xu, H., Fu, Q., Yao, H."Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis". Molecular Medicine Reports 12, no. 4 (2015): 6267-6274. https://doi.org/10.3892/mmr.2015.4201
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