×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism .
15260953 2004
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
17282997 2007
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.
17516473 2007
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
17595045 2007
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.19652145 2009
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.
20558373 2010
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.
20576601 2010
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
22534615 2012
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism , AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression.
22842232 2012
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Unlike ATP1A3 mutations that cause rapid-onset dystonia-parkinsonism , AHC-causing mutations in this gene caused consistent reductions in ATPase activity without affecting the level of protein expression.
22842232 2012
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
AHC and rapid-onset dystonia-parkinsonism are allelic diseases related to mutations in ATP1A3 and form a phenotypical continuum of a dystonic movement disorder.
22850527 2012
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
23409136 2013
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
The multiple faces of the ATP1A3-related dystonic movement disorder.
23483595 2013
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
24100174 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Genotype-phenotype correlations in alternating hemiplegia of childhood.
24431296 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
24468074 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
24523486 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
24523486 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.
24631656 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
24842602 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
24842602 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.
25056583 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
25447930 2015
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.
25523819 2015
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
A functional correlate of severity in alternating hemiplegia of childhood.
25681536 2015