Hyperkalemic periodic paralysis and paramyotonia congenita – A novel sodium channel mutation –

@article{Okuda2001HyperkalemicPP,
  title={Hyperkalemic periodic paralysis and paramyotonia congenita – A novel sodium channel mutation –},
  author={Shiho Okuda and Fumio Kanda and Keisuke Nishimoto and Ryogen Sasaki and Kazuo Chihara},
  journal={Journal of Neurology},
  year={2001},
  volume={248},
  pages={1003-1004}
}
Sirs: The group of hereditary sodium channel diseases, also termed sodium channelopathies, comprises hyperkalemic periodic paralysis (HyperPP), some forms of hypokalemic periodic paralysis, paramyotonia congenita (PC) and potassium aggravated myotonia [1, 4, 5, 7, 8]. They occur by autosomal dominant inheritance caused by point mutations in the gene encoding the α-subunit of the adult human skeletal muscle sodium channel (SCN4A) [1, 7, 8]. Here we report a case of HyperPP and PC with novel… 

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[Hyperkalemic periodic paralysis].

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  • 2001