Article
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Brain : a journal of neurology - 1 Jan 2006
Venance S L, Cannon S C, Fialho D, Fontaine B, Hanna M G, Ptacek L J, Tristani-Firouzi M, Tawil R, Griggs R C
Abstract excerpt
Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. Hypokalaemic (HypoPP) and hyperkalaemic PP and Andersen-Tawil syndrome are genetically heterogeneous. Over the past decade mutations in genes encoding three ion channels, CACN1AS, SCN4A and KCNJ2, have been identified and account...
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