(Q27312451)

25 June 2017

title

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly (English)

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25 June 2017

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postnatal microcephaly

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16

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25 June 2017

Valeria Vasta

9

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Allison Brashear

14

object named as

Allison Brashear

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25 June 2017

13

Laurie J Ozelius

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25 June 2017

Alex R Paciorkowski

1

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25 June 2017

Sharon S McDaniel

2

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25 June 2017

Laura A Jansen

3

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25 June 2017

Hannah Tully

4

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25 June 2017

Emily Tuttle

5

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25 June 2017

Dalia H Ghoneim

6

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25 June 2017

Srinivasan Tupal

7

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25 June 2017

Sonya A Gunter

8

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25 June 2017

Qing Zhang

10

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25 June 2017

Thao Tran

11

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25 June 2017

Yi B Liu

12

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25 June 2017

Kathleen J Sweadner

15

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25 June 2017

Sihoun Hahn

17

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25 June 2017

language of work or name

English

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publication date

5 February 2015

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25 June 2017

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25 June 2017

volume

56

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25 June 2017

issue

3

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25 June 2017

page(s)

422-430

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describes a project that uses

25 June 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4363281/fullTextXML

inferred from PubMed Central ID database lookup

cites work

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Crystal structure of the sodium-potassium pump at 2.4 A resolution

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

21 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Temporal and topographic alterations in expression of the alpha3 isoform of Na+, K(+)-ATPase in the rat freeze lesion model of microgyria and epileptogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Cognitive impairment in rapid-onset dystonia-parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

A specific and essential role for Na,K-ATPase α3 in neurons co-expressing α1 and α3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Psychiatric disorders in rapid-onset dystonia-parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Selective inhibition of striatal fast-spiking interneurons causes dyskinesias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Na,K-ATPase subunit heterogeneity as a mechanism for tissue-specific ion regulation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Neuronal function and alpha3 isoform of the Na/K-ATPase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

31 May 2018

1 reference

Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

21 January 2018

1 reference

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

21 January 2018

1 reference

The multiple faces of the ATP1A3-related dystonic movement disorder.

21 January 2018

1 reference

Genotype-phenotype correlations in alternating hemiplegia of childhood

21 January 2018

1 reference

Rapid-onset dystonia-parkinsonism: case report

21 January 2018

1 reference

Differential expression of Na+/K+-ATPase alpha-subunits in mouse hippocampal interneurones and pyramidal cells.

21 January 2018

1 reference

Differential effects of Na+-K+ ATPase blockade on cortical layer V neurons

21 January 2018

1 reference

A pathophysiological link between dystonia, striatal interneurons and neuropeptide Y.

21 January 2018

1 reference

Rapid-onset dystonia-parkinsonism

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4363281

The expanding clinical and genetic spectrum of ATP1A3-related disorders

28 November 2018

1 reference

12 December 2020

Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase

1 reference

12 December 2020

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

12 December 2020

Clinical spectrum of disease associated with ATP1A3 mutations

1 reference

12 December 2020

Identifiers

DOI

10.1111/EPI.12914

1 reference

OpenCitations bibliographic resource ID

25 June 2017

805514

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

805514

1 reference