rs606231435
|
|
Cerebellar Ataxia
|
T |
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
|
29184165 |
2017 |
rs606231435
|
|
DYSTONIA 12
|
T |
0.700 |
CausalMutation
|
CLINVAR |
<b>Conclusion:</b> The p. R756H heterozygous mutation in ATP1A3 gene is the pathogenic mutation of RDP, analysis of genotype-phenotype correlations of RDP will be very important and meaningful.
|
28441826 |
2017 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
|
28293679 |
2017 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
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 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
|
26297560 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
|
26410222 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
|
25895915 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
|
25656163 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
|
25359261 |
2015 |
rs606231435
|
|
DYSTONIA 12
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
|
25996915 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
|
25996915 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
|
26400718 |
2015 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
|
24123283 |
2014 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
|
24468074 |
2014 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
|
24996492 |
2014 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Distinct neurological disorders with ATP1A3 mutations.
|
24739246 |
2014 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cognitive impairment in rapid-onset dystonia-parkinsonism.
|
24436111 |
2014 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The multiple faces of the ATP1A3-related dystonic movement disorder.
|
23483595 |
2013 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
|
22850527 |
2012 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
|
22842232 |
2012 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
|
22534615 |
2012 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
|
22924536 |
2012 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Psychiatric disorders in rapid-onset dystonia-parkinsonism.
|
22933743 |
2012 |
rs606231435
|
|
Movement Disorders
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
|
19652145 |
2009 |