(Q28471659)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response (English)

1 reference

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29 December 2019

1 reference

1

1 reference

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29 December 2019

author name string

Minerva Yue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Wendy Chung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Meghan Spyres

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Robert H Pass

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Eric Silver

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Kevin J Sampson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Robert S Kass

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

5 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

12

1 reference

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29 December 2019

page(s)

e1258

1 reference

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Creative Commons Attribution 4.0 International

29 December 2019

copyright license

start time

5 December 2007

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Molecular basis of ranolazine block of LQT-3 mutant sodium channels: evidence for site of action

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Mutation-specific pharmacology of the long QT syndrome.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Common molecular determinants of flecainide and lidocaine block of heart Na+ channels: evidence from experiments with neutral and quaternary flecainide analogues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Inhibition of the current of heterologously expressed HERG potassium channels by flecainide and comparison with quinidine, propafenone and lignocaine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

De novo mutation in the SCN5A gene associated with early onset of sudden infant death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

A molecular link between the sudden infant death syndrome and the long-QT syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Regulation of voltage-gated K+ channel expression in the developing mammalian myocardium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Pharmacological targeting of long QT mutant sodium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Molecular mechanism for an inherited cardiac arrhythmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Long QT syndrome: from channels to cardiac arrhythmias

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Preferential block of late sodium current in the LQT3 DeltaKPQ mutant by the class I(C) antiarrhythmic flecainide.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082660

Safety and efficacy of flecainide in subjects with Long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Cardiac sodium channel dysfunction in sudden infant death syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

A model for human ventricular tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Developmental changes in IKr and IKs contribute to age-related expression of dofetilide effects on repolarization and proarrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Alternation of inwardly rectifying background K+ channel during development of rat fetal cardiomyocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Cardiac arrhythmias of genetic origin are important contributors to sudden infant death syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0001258

Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene

21 January 2018

1 reference

12 December 2020

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome

1 reference

12 December 2020

Comparison of the effects of class I anti-arrhythmic drugs, cibenzoline, mexiletine and flecainide, on the delayed rectifier K+ current of guinea-pig ventricular myocytes

1 reference

12 December 2020

Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0001258

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

ADS bibcode

2007PLoSO...2.1258B

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18060054%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

18060054

2 references