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alternating hemiplegia of childhood 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
Uniprot Description A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.
Mondo Term and Equivalent IDs
MONDO:0007087:  alternating hemiplegia of childhood 1
UMLS:C3549447: