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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/06/2006
Symbol HOKPP2
Location 17q23.3
Name hypokalemic periodic paralysis
Corresponding gene SCN4A
Main clinical features
  • episodic weakness accompanied by low serum potassium levels, with attacks aborted by administration of potassium or by exercise and precipitated by insulin or glucose administration and with markedly reduced penetrance in females
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name sodium voltage-gated channel (SCN4A)
    Gene mutationChromosome rearrangementEffectComments
    unknown     R672C