×
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
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
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
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
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
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
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
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
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
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
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
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism .
15260953
2004