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  • 标题:An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
  • 本地全文:下载
  • 作者:Park, Yang Hee ; Kim, June Bum
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2010
  • 卷号:53
  • 期号:10
  • 页码:909-912
  • DOI:10.3345/kjp.2010.53.10.909
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A , leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.

  • 关键词:Hypokalemic periodic paralysis; Respiratory insufficiency; Sodium channel
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