MCID: ATP015
MIFTS: 11

Atp1a3-Related Neurologic Disorders

Categories: Neuronal diseases

Aliases & Classifications for Atp1a3-Related Neurologic Disorders

MalaCards integrated aliases for Atp1a3-Related Neurologic Disorders:

Name: Atp1a3-Related Neurologic Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Rdp. penetrance is incomplete. the small number of families with rdp studied to date limits the estimate of penetrance; however, several members of the larger reported families have had a heterozygous atp1a3 pathogenic variant but no symptoms [kramer et al 1999, de carvalho aguiar et al 2004, brashear et al 2007]....

Classifications:



Summaries for Atp1a3-Related Neurologic Disorders

MalaCards based summary : Atp1a3-Related Neurologic Disorders is related to cardiac arrhythmia and dystonia 12. An important gene associated with Atp1a3-Related Neurologic Disorders is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include brain.

GeneReviews: NBK1115

Related Diseases for Atp1a3-Related Neurologic Disorders

Graphical network of the top 20 diseases related to Atp1a3-Related Neurologic Disorders:



Diseases related to Atp1a3-Related Neurologic Disorders

Symptoms & Phenotypes for Atp1a3-Related Neurologic Disorders

Drugs & Therapeutics for Atp1a3-Related Neurologic Disorders

Search Clinical Trials , NIH Clinical Center for Atp1a3-Related Neurologic Disorders

Genetic Tests for Atp1a3-Related Neurologic Disorders

Anatomical Context for Atp1a3-Related Neurologic Disorders

MalaCards organs/tissues related to Atp1a3-Related Neurologic Disorders:

41
Brain

Publications for Atp1a3-Related Neurologic Disorders

Articles related to Atp1a3-Related Neurologic Disorders:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Novel pregnancy-triggered episodes of CAPOS syndrome. 4
29090527 2018
2
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. 4
28647130 2017
3
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. 4
28249736 2017
4
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. 4
28483396 2017
5
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation. 4
28382329 2017
6
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 4
28293679 2017
7
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. 4
27931826 2017
8
Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 4
27726050 2017
9
Recognizable facial features in patients with alternating hemiplegia of childhood. 4
27312461 2016
10
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. 4
27626066 2016
11
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations. 4
30363590 2016
12
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum. 4
30713930 2016
13
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 4
27091223 2016
14
ATP1A3 Mutation in Adult Rapid-Onset Ataxia. 4
26990090 2016
15
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 4
26400718 2015
16
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. 4
26453127 2015
17
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 4
25895915 2015
18
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 4
26297560 2015
19
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 4
26410222 2015
20
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 4
25656163 2015
21
Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12). 4
30713884 2015
22
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. 4
24532324 2015
23
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations. 4
26417536 2015
24
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 4
25996915 2015
25
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. 4
25439493 2014
26
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. 4
24707016 2014
27
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 4
24996492 2014
28
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. 4
25056583 2014
29
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. 4
24803225 2014
30
A novel ATP1A3 mutation with unique clinical presentation. 4
24713507 2014
31
Distinct neurological disorders with ATP1A3 mutations. 4
24739246 2014
32
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. 4
24491413 2014
33
Cognitive impairment in rapid-onset dystonia-parkinsonism. 4
24436111 2014
34
The expanding clinical and genetic spectrum of ATP1A3-related disorders. 4
24523486 2014
35
Genotype-phenotype correlations in alternating hemiplegia of childhood. 4
24431296 2014
36
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 4
24842602 2014
37
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 4
24468074 2014
38
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 4
24123283 2014
39
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. 4
23916143 2013
40
The multiple faces of the ATP1A3-related dystonic movement disorder. 4
23483595 2013
41
Phenomenology and classification of dystonia: a consensus update. 4
23649720 2013
42
Alternating hemiplegia of childhood. 4
23622289 2013
43
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 4
22924536 2012
44
Psychiatric disorders in rapid-onset dystonia-parkinsonism. 4
22933743 2012
45
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 4
22494152 2012
46
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 4
22842232 2012
47
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 4
22534615 2012
48
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. 4
20974617 2010
49
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. 4
20576601 2010
50
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. 4
20558373 2010

Variations for Atp1a3-Related Neurologic Disorders

Expression for Atp1a3-Related Neurologic Disorders

Search GEO for disease gene expression data for Atp1a3-Related Neurologic Disorders.

Pathways for Atp1a3-Related Neurologic Disorders

GO Terms for Atp1a3-Related Neurologic Disorders

Sources for Atp1a3-Related Neurologic Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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34 ICD10 via Orphanet
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49 NCI
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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