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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-10-2016
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