×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
29184165
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders.
28293679
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
27091223
2016
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
25359261
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
25996915
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
26297560
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
26400718
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
25656163
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
25895915
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Cognitive impairment in rapid-onset dystonia-parkinsonism.
24436111
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
24468074
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Distinct neurological disorders with ATP1A3 mutations.
24739246
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
24996492
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
24123283
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
The multiple faces of the ATP1A3-related dystonic movement disorder.
23483595
2013
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
22850527
2012
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
22924536
2012
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
22842232
2012
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
22534615
2012
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Psychiatric disorders in rapid-onset dystonia-parkinsonism.
22933743
2012
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
19652145
2009
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.
16632466
2006
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Multiple congenital anomalies
0.100
GeneticVariation
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
11020638
2000