×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
28441826 2017
×
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
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
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
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
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
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
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
26400718 2015
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
26400718 2015
×
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
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
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
GeneticVariation
CLINVAR
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
27726050 2017
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
27726050 2017
×
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
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
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
Genotype-phenotype correlations in alternating hemiplegia of childhood.
24431296 2014
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
27634470 2016
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
27634470 2016
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
GeneticVariation
CLINVAR
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
26410222 2015
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
26410222 2015
×
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
DYSTONIA 12
0.800
CausalMutation
CLINVAR
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
27268479 2016