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GENATLAS PHENOTYPE

last update : 29-05-2024

Symbol	AHC2
Location	19q13.2
Name	alternating hemiplegia of childhood 2
Corresponding gene	ATP1A3
Main clinical features	characterized by infantile onset of episodic hemi-or quadriplegia; most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment infantile onset of hemiplegic attacks, usually associated with episodes of quadriparesis, abnormal eye movements, autonomic signs, seizures, dystonia, ataxia, chorea
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

. impaired neuronal Na/K-ATPase ion transport activity in human AHC neurons , demonstrating the potential impact of this genetic defect on cellular excitability (PMID: 29567111))