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last update : 20/07/2006
Symbol HYKPP
Location 17q23.3
Name hyperkalemic periodic paralysis
Other name(s)
  • Gamstorp disease
  • adynamia episodica hereditaria with or without myotonia
  • Corresponding gene SCN4A
    Other symbol(s) HYPP
    Main clinical features
  • myotonia, allelic to paramyotonia congenita (see PMC)
  • acetazolamide responsive myotonia congenita
  • isolated adynamia episodica hereditaria without myotonia
  • myotonia fluctuans permanens characterized by worsenting myotonia of delayed delay after exercise, with no influence of exposure to cold
  • Genetic determination autosomal dominant
    Related entries including cases of potassium-sensitive and normokalemic type of periodic paralysis
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sodium channel, voltage gated (SCN4A)
    Gene mutationChromosome rearrangementEffectComments
    unknown     R675G, R675W in normokalemic type of periodic paralysis