Disease

Hyperkalemic Periodic Paralysis

About the Disease
Hyperkalemic Periodic Paralysis, also known as gamstorp disease, is related to myotonia, potassium-aggravated and periodic paralysis, and has symptoms including stridor, muscular stiffness and myalgia. An important gene associated with Hyperkalemic Periodic Paralysis is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. The drugs Hops and Diclofenamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and tongue, and related phenotypes are emg abnormality and reduced tendon reflexes

Common Targets
Carbonic Anhydrase (nonspecified subtype) | SCN4A

疾病靶点研报
Hyperkalemic Periodic Paralysis

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