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GENATLAS PHENOTYPE
last update : 7/07/2006
Symbol HOKPP3
Location 11q13-q14
Name hypokalemic periodic paralysis
Corresponding gene KCNE3
Main clinical features
  • episodic attacks of muscle weakness and a decrease in blood potassium
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name potassium voltage-gated channel (KCNE3), mutations reducing the current density of the complex KCNE3/KCNC4