(Q30840535)

21 August 2017

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders (English)

1 reference

21 August 2017

27

Kathryn Swoboda

2 references

ORCID Public Data File 2021

21 August 2017

Allison Brashear

10

object named as

Allison Brashear

1 reference

21 August 2017

5

Laurie Ozelius

1 reference

21 August 2017

Hendrik Rosewich

1

1 reference

21 August 2017

Matthew T Sweney

2

1 reference

21 August 2017

Suzanne DeBrosse

3

1 reference

21 August 2017

Kevin Ess

4

1 reference

21 August 2017

Eva Andermann

6

1 reference

21 August 2017

Frederick Andermann

7

1 reference

21 August 2017

Gene Andrasco

8

1 reference

21 August 2017

Alice Belgrade

9

1 reference

21 August 2017

Sharon Ciccodicola

11

1 reference

21 August 2017

Lynn Egan

12

1 reference

21 August 2017

Alfred L George

13

1 reference

21 August 2017

Aga Lewelt

14

1 reference

21 August 2017

Joshua Magelby

15

1 reference

21 August 2017

Mario Merida

16

1 reference

21 August 2017

Tara Newcomb

17

1 reference

21 August 2017

Vicky Platt

18

1 reference

21 August 2017

Dominic Poncelin

19

1 reference

21 August 2017

Sandra Reyna

20

1 reference

21 August 2017

Masayuki Sasaki

21

1 reference

21 August 2017

Marcio Sotero de Menezes

22

1 reference

21 August 2017

Kathleen Sweadner

23

1 reference

21 August 2017

Louis Viollet

24

1 reference

21 August 2017

Mary Zupanc

25

1 reference

21 August 2017

Kenneth Silver

26

1 reference

21 August 2017

2 March 2017

1 reference

21 August 2017

1 reference

21 August 2017

3

1 reference

21 August 2017

2

1 reference

21 August 2017

e139

1 reference

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Who to target in sudden unexpected death in epilepsy prevention and how? Risk factors, biomarkers, and intervention study designs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Distinct neurological disorders with ATP1A3 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

ILAE official report: a practical clinical definition of epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Unifying the definitions of sudden unexpected death in epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Sudden unexpected death in epilepsy: a review of incidence and risk factors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Regional expression of sodium pump subunits isoforms and Na+-Ca++ exchanger in the human heart

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

A novel ATP1A3 mutation with unique clinical presentation.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Genotype-phenotype correlations in alternating hemiplegia of childhood.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Asystole in alternating hemiplegia with de novo ATP1A3 mutation

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Electrical and autonomic cardiac function in patients with Dravet syndrome

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Rapid-onset dystonia-parkinsonism: case report

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

Rapid-onset dystonia-parkinsonism

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5335249

The expanding clinical and genetic spectrum of ATP1A3-related disorders

25 November 2018

1 reference

12 December 2020

[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

1 reference

12 December 2020

Alternating hemiplegia of childhood

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1212/NXG.0000000000000139

Identifiers

DOI

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

28293679

1 reference