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Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
See this aricle in Pubmed

Article Abstract
Mutation analysis of the ATP1A3 gene in patients who met clinical criteria for AHC allows for definite genetic diagnosis and sound genetic counselling. AHC and rapid-onset dystonia-parkinsonism are allelic diseases related to mutations in ATP1A3 and form a phenotypical continuum of a dystonic movement disorder.
 
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alternating hemiplegia
alternating hemiplegia of childhood
amimia
ATP1A3 gene
dysphagia
dystonia
exome sequencing
gene mutation
hemiparesis,transient
level of consciousness,decreased
mutism
nystagmus
paroxysmal neurologic deficits
precipitating factors
prognosis
quadriplegia
salivation,excessive
seizure

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