Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype (Q27303611)

26 June 2017

title

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

1 reference

alternating hemiplegia of childhood

26 June 2017

0 references

1 reference

Nardo Nardocci

1 reference

26 June 2017

Henry Houlden

1 reference

26 June 2017

Cyrus Boelman

0 references

Jan Novy

0 references

Juan P Kaski

0 references

Tiziana Granata

0 references

Pier D Lambiase

0 references

Josemir W Sander

0 references

Ingrid E Scheffer

1 reference

26 June 2017

Alexis Arzimanoglou

0 references

Elijah R Behr

0 references

Michael G Hanna

1 reference

26 June 2017

Fatima Jaffer

1 reference

26 June 2017

Andreja Avbersek

1 reference

26 June 2017

Rosaria Vavassori

1 reference

26 June 2017

Carmen Fons

1 reference

26 June 2017

Jaume Campistol

1 reference

26 June 2017

Michela Stagnaro

1 reference

26 June 2017

Elisa De Grandis

1 reference

26 June 2017

Edvige Veneselli

1 reference

26 June 2017

Hendrik Rosewich

1 reference

26 June 2017

Melania Gianotta

1 reference

26 June 2017

Claudio Zucca

1 reference

26 June 2017

Francesca Ragona

1 reference

26 June 2017

Mohamed Mikati

1 reference

26 June 2017

Ashley R Helseth

1 reference

26 June 2017

Berge A Minassian

1 reference

26 June 2017

Sophia Johns

1 reference

26 June 2017

Sarah I Garry

1 reference

26 June 2017

Isabelle Gourfinkel-An

1 reference

26 June 2017

Ines Carrilho

1 reference

26 June 2017

Sarah E Aylett

1 reference

26 June 2017

Matthew Parton

1 reference

26 June 2017

Brian Neville

1 reference

26 June 2017

Manju A Kurian

1 reference

26 June 2017

Tsveta Schyns

1 reference

26 June 2017

J Helen Cross

1 reference

26 June 2017

Sanjay M Sisodiya

1 reference

26 June 2017

language of work or name

English

0 references

publication date

21 August 2015

1 reference

26 June 2017

1 reference

26 June 2017

volume

138

1 reference

26 June 2017

issue

Pt 10

1 reference

26 June 2017

page(s)

2859-2874

1 reference

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice

26 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

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=4671482

Clinical significance of variants of J-points and J-waves: early repolarization patterns and risk

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Disease gene identification strategies for exome sequencing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

The treatment and management of 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=4671482

Expression of alpha isoforms of the Na,K-ATPase in human heart

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Increased prevalence of ECG markers for sudden cardiac arrest in refractory epilepsy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Distinct neurological disorders with ATP1A3 mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Long QT syndrome: a Korean single center study.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Genetic testing for inherited cardiac disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

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=4671482

Cardiac channelopathies: genetic and molecular mechanisms.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 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=4671482

Dravet syndrome: The long‐term outcome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Spontaneous fluctuations between diagnostic and nondiagnostic ECGs in Brugada syndrome screening: Portuguese family with Brugada 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=4671482

Proteome-wide protein concentrations in the human heart.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Too long or too short? New insights into abnormal cardiac repolarization in people with chronic epilepsy and its potential role in sudden unexpected death

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Comm

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Corrected QT variability in serial electrocardiograms in long QT syndrome: the importance of the maximum corrected QT for risk stratification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

The early repolarization normal variant electrocardiogram: correlates and consequences

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Congenital long QT syndrome presenting with a history of epilepsy: misdiagnosis or relationship between channelopathies of the heart and brain?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4671482

Right bundle branch block: prevalence, risk factors, and outcome in the general population: results from the Copenhagen City Heart Study

31 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Electrical and autonomic cardiac function in patients with Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

QT and P wave dispersion and heart rate variability in patients with Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Asystole in alternating hemiplegia with de novo ATP1A3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

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

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Genotype-phenotype correlations in alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV243

Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation

21 January 2018

1 reference

12 December 2020

Taking the "idio" out of "idiosyncratic": predicting torsades de pointes

1 reference

12 December 2020

A prospective study on spontaneous fluctuations between diagnostic and non-diagnostic ECGs in Brugada syndrome: implications for correct phenotyping and risk stratification

1 reference

12 December 2020

Cardiac Conduction Disturbance Detected in a Pediatric Population

1 reference

12 December 2020

Variability of the diagnostic ECG pattern in an ICD patient population with Brugada syndrome

1 reference

12 December 2020

AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhyth

1 reference

12 December 2020

The expanding clinical and genetic spectrum of ATP1A3-related disorders

1 reference

12 December 2020

Further observations to confirm the arrhythmia mechanism-specific effects of flunarizine

1 reference

12 December 2020

Alternating hemiplegia of childhood

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWV243

1 reference

OpenCitations bibliographic resource ID

26 June 2017

805455

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

805455

1 reference