(Q36094652)

12 August 2017

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients (English)

1 reference

12 August 2017

Arn van den Maagdenberg

29

Arn M J M van den Maagdenberg

0 references

Boukje de Vries

7

Boukje de Vries

0 references

Fiorella Gurrieri

Fiorella Gurrieri

24

0 references

David Kemlink

David Kemlink

10

0 references

Mohamad A. Mikati

Mohamad Mikati

30

0 references

Soňa Nevšímalová

Sona Nevsimalova

26

0 references

Sarah Weckhuysen

9

Sarah Weckhuysen

1 reference

12 August 2017

Sophie Nicole

27

0 references

Ingrid Scheffer

11

Ingrid Scheffer

1 reference

12 August 2017

4

Erin L Heinzen

1 reference

12 August 2017

31

David B Goldstein

1 reference

12 August 2017

Eleni Panagiotakaki

1

1 reference

12 August 2017

Elisa De Grandis

2

1 reference

12 August 2017

Michela Stagnaro

3

1 reference

12 August 2017

Carmen Fons

5

1 reference

12 August 2017

Sanjay Sisodiya

6

1 reference

12 August 2017

Boukje de Vries

7

1 reference

12 August 2017

Christophe Goubau

8

1 reference

12 August 2017

Gaëtan Lesca

12

1 reference

12 August 2017

Muriel Rabilloud

13

1 reference

12 August 2017

Amna Klich

14

1 reference

12 August 2017

Alia Ramirez-Camacho

15

1 reference

12 August 2017

Adriana Ulate-Campos

16

1 reference

12 August 2017

Jaume Campistol

17

1 reference

12 August 2017

Melania Giannotta

18

1 reference

12 August 2017

Marie-Laure Moutard

19

1 reference

12 August 2017

Diane Doummar

20

1 reference

12 August 2017

Cecile Hubsch-Bonneaud

21

1 reference

12 August 2017

Fatima Jaffer

22

1 reference

12 August 2017

Helen Cross

23

1 reference

12 August 2017

Danilo Tiziano

25

1 reference

12 August 2017

Brian Neville

28

1 reference

12 August 2017

Rosaria Vavassori

32

1 reference

12 August 2017

Alexis Arzimanoglou

33

1 reference

12 August 2017

Italian IBAHC Consortium

34

1 reference

12 August 2017

French AHC Consortium

35

1 reference

12 August 2017

International AHC Consortium

36

1 reference

12 August 2017

26 September 2015

1 reference

Orphanet Journal of Rare Diseases

12 August 2017

1 reference

12 August 2017

10

1 reference

12 August 2017

123

1 reference

https://scigraph.springernature.com/pub.10.1186/s13023-015-0335-5

12 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Distinct neurological disorders with ATP1A3 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Glut1 deficiency and alternating hemiplegia of childhood

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

A functional correlate of severity in alternating hemiplegia of childhood.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

A novel ATP1A3 mutation with unique clinical presentation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Genotype-phenotype correlations in alternating hemiplegia of childhood.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Rapid-onset dystonia-parkinsonism: case report.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Alternating hemiplegia in infants: report of five cases.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

Rapid-onset dystonia-parkinsonism

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4583741

The control of the false discovery rate in multiple testing under dependency

21 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-015-0335-5

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-015-0335-5

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation

21 January 2018

1 reference

12 December 2020

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

1 reference

12 December 2020

The expanding clinical and genetic spectrum of ATP1A3-related disorders

1 reference

12 December 2020

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

1 reference

12 December 2020

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes

1 reference

12 December 2020

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

1 reference

12 December 2020

Paroxysmal Hemipareses in Childhood

1 reference

12 December 2020

Alternating hemiplegia of childhood

1 reference

12 December 2020

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

12 December 2020

10.1186/S13023-015-0335-5

Identifiers

DOI

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

1 reference