MCID: ATP015
MIFTS: 13

Atp1a3-Related Neurologic Disorders

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atp1a3-Related Neurologic Disorders

MalaCards integrated aliases for Atp1a3-Related Neurologic Disorders:

Name: Atp1a3-Related Neurologic Disorders 25 6

Characteristics:

GeneReviews:

25
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 3-methylglutaconic aciduria, type iii. An important gene associated with Atp1a3-Related Neurologic Disorders is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3).

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

Publications for Atp1a3-Related Neurologic Disorders

Articles related to Atp1a3-Related Neurologic Disorders:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Novel pregnancy-triggered episodes of CAPOS syndrome. 25
29090527 2018
2
Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. 25
28647130 2017
3
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. 25
28249736 2017
4
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. 25
28483396 2017
5
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation. 25
28382329 2017
6
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 25
28293679 2017
7
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. 25
27931826 2017
8
Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 25
27726050 2017
9
Recognizable facial features in patients with alternating hemiplegia of childhood. 25
27312461 2016
10
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. 25
27626066 2016
11
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum. 25
30713930 2016
12
Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations. 25
30363590 2016
13
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 25
27091223 2016
14
Medical management of epileptic seizures: challenges and solutions. 25
26966367 2016
15
ATP1A3 Mutation in Adult Rapid-Onset Ataxia. 25
26990090 2016
16
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 25
26400718 2015
17
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. 25
26453127 2015
18
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 25
25895915 2015
19
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 25
26297560 2015
20
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 25
26410222 2015
21
Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12). 25
30713884 2015
22
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. 25
25656163 2015
23
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. 25
24532324 2015
24
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations. 25
26417536 2015
25
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 25
25996915 2015
26
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. 25
25439493 2014
27
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. 25
24707016 2014
28
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 25
24996492 2014
29
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. 25
25056583 2014
30
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. 25
24803225 2014
31
A novel ATP1A3 mutation with unique clinical presentation. 25
24713507 2014
32
Distinct neurological disorders with ATP1A3 mutations. 25
24739246 2014
33
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. 25
24491413 2014
34
Cognitive impairment in rapid-onset dystonia-parkinsonism. 25
24436111 2014
35
The expanding clinical and genetic spectrum of ATP1A3-related disorders. 25
24523486 2014
36
Genotype-phenotype correlations in alternating hemiplegia of childhood. 25
24431296 2014
37
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 25
24842602 2014
38
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 25
24468074 2014
39
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. 25
24123283 2014
40
Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. 25
23916143 2013
41
The multiple faces of the ATP1A3-related dystonic movement disorder. 25
23483595 2013
42
Phenomenology and classification of dystonia: a consensus update. 25
23649720 2013
43
Alternating hemiplegia of childhood. 25
23622289 2013
44
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 25
22924536 2012
45
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 25
22494152 2012
46
Psychiatric disorders in rapid-onset dystonia-parkinsonism. 25
22933743 2012
47
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 25
22842232 2012
48
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 25
22534615 2012
49
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. 25
20974617 2010
50
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. 25
20576601 2010

Variations for Atp1a3-Related Neurologic Disorders

ClinVar genetic disease variations for Atp1a3-Related Neurologic Disorders:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A3 NM_152296.5(ATP1A3):c.1076C>A (p.Ser359Tyr) SNV Likely pathogenic 973294 19:42486176-42486176 19:41982024-41982024

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
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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