Hyperkalaemic periodic paralysis

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Web Resources for Hyperkalaemic periodic paralysis
Other Names
Hyperkalemic periodic paralysis, HYPP, adynamia episodica hereditaria with or without myotonia, Gamstorp disease, periodic normokalaemic paralysis, periodic normokalemic paralysis
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Wikipedia on Hyperkalaemic periodic paralysis (Less technical, ? quality control)

Hyperkalaemic periodic paralysis is a channelopathy caused by variations in the SCN4A gene in horses (where first characterised) and man. The sodium channel protein type 4 subunit alpha helps mediate the voltage-dependent sodium ion permeability of excitable membranes and with this abnormality patients have myotonia and episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Phenotype variants may have normal potassium and share phenotypes with other SCN4A conditions such as paramyotonia congenita.