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GENATLAS PHENOTYPE

last update : 29-05-2024

Symbol	AHPC
Location	1q23.2
Name	alternating hemiplegia of childhood
Corresponding gene	ATP1A2
Other symbol(s)	AHC
Main clinical features	rare syndrome of episodic hemi- or quadriplegia lasting minutes to days also characterized by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name

ATP1A2

Remark(s)