×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
GeneticVariation
BEFREE
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
29861155
2018
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
CausalMutation
CLINVAR
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
29184165
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
CausalMutation
CLINVAR
Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders.
28293679
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
GeneticVariation
CLINVAR
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
29184165
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
GeneticVariation
CLINVAR
Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders.
28293679
2017
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
Biomarker
BEFREE
The field of movement disorders with neuronal antibodies keeps expanding with the discovery for example of antibodies against leucine rich glioma inactivated protein 1 (LGI1) and contactin associated protein 2 (Caspr2) in chorea, or antibodies targeting ARHGAP26- or Na/K ATPase alpha 3 subunit (ATP1A3 ) in cerebellar ataxia.
27262149
2016
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
CausalMutation
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
Movement Disorders
0.160
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
Movement Disorders
0.160
GeneticVariation
CLINVAR
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
26297560
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
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
Movement Disorders
0.160
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
Movement Disorders
0.160
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
Movement Disorders
0.160
CausalMutation
CLINVAR
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
26400718
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
GeneticVariation
CLINVAR
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
26400718
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
CausalMutation
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
Movement Disorders
0.160
CausalMutation
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
Movement Disorders
0.160
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
Movement Disorders
0.160
CausalMutation
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
Movement Disorders
0.160
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
Movement Disorders
0.160
CausalMutation
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
Movement Disorders
0.160
CausalMutation
CLINVAR
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
26297560
2015
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
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
Movement Disorders
0.160
CausalMutation
CLINVAR
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
24468074
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
CausalMutation
CLINVAR
Cognitive impairment in rapid-onset dystonia-parkinsonism.
24436111
2014
×
Entrez Id:
478
Gene Symbol:
ATP1A3
ATP1A3
Movement Disorders
0.160
GeneticVariation
CLINVAR
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
24123283
2014