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GENATLAS PHENOTYPE

last update : 20/06/2006

Symbol	HOKPP2
Location	17q23.3
Name	hypokalemic periodic paralysis
Corresponding gene	SCN4A
Main clinical features	episodic weakness accompanied by low serum potassium levels, with attacks aborted by administration of potassium or by exercise and precipitated by insulin or glucose administration and with markedly reduced penetrance in females
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	sodium voltage-gated channel (SCN4A)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			R672C

Remark(s)