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GENATLAS PHENOTYPE

last update : 19-04-2010

Symbol	THYPOKPP2
Location	17p11
Name	thyrotoxic hypokalemic paralysis 2 susceptibility
Corresponding gene	KCNJ18
Other symbol(s)	TTPP2
Main clinical features	sporadic muscle disorder characterized by episodic attacks of weakness and hypokalemia in some thyrotoxic individuals patients are normal between attacks, which resolve with treatment of thyrotoxicosis
Genetic determination	autosomal dominant
Related entries	inclyding cases of non-familial hypokalemic periodic paralysis. (PMID; 21665951)
Function/system disorder	endocrinology
	neuromuscular
Type	susceptibility factor

Remark(s)

mutations are largely localized in the channel's intracellular C terminus with a single frame-shift truncation mutation in the pore region decreased outward K+ current from hypofunction of KCNJ18 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na+ channel inactivation and inexcitability of muscles (PMID; 21665951))