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last update : 13-02-2010
Symbol HOKPP1
Location 1q32.1
Name hypokalemic periodic paralysis
Corresponding gene CACNA1S
Other symbol(s) CACNL1A3, HYPOPP
Main clinical features
  • associated with a secundary reduced sarcolemma KATPs current
  • episodic weakness accompanied by low serum potassium levels, aborted by administration of potassium or by exercise and precipitated by insulin or glucose administration (oral intake of KCl is effective in blocking the symptomatic attacks)
  • hypokalemic periodic paralysis shows markedly reduced penetrance in females, although penetrance is 100% in males
  • in muscle fibers of patients, the basic defects are a reduced excitability and an increased sodium conductance, and these defects are aggravated by reduction of the extracellular potassium concentration
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name calcium channel L type, skeletal alpha 1 subunit, isoform 3