(Q34775754)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author

Argelia Medeiros-domingo

1

1 reference

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3 February 2020

7

Michael J Ackerman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Bi-Hua Tan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Pedro Iturralde-Torres

3

1 reference

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3 February 2020

David J Tester

4

1 reference

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3 February 2020

Teresa Tusié-Luna

5

1 reference

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3 February 2020

Jonathan C Makielski

6

1 reference

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3 February 2020

publication date

4 May 2009

1 reference

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3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

6

1 reference

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3 February 2020

issue

8

1 reference

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3 February 2020

page(s)

1170-1175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

7 July 2018

1 reference

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Clinical aspects and prognosis of Brugada syndrome in children

7 July 2018

1 reference

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Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Syncopal monomorphic ventricular tachycardia with pleomorphism, sensitive to antitachycardia pacing in a patient with Brugada syndrome.

7 July 2018

1 reference

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SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

7 July 2018

1 reference

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International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Natural history of Brugada syndrome: insights for risk stratification and management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Cardiac conduction defects associate with mutations in SCN5A

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Temperature dependence of early and late currents in human cardiac wild-type and long Q-T DeltaKPQ Na+ channels.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Role of the amino and carboxy termini in isoform-specific sodium channel variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Brugada syndrome in children: don't ask, don't tell?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Identification of binding domains in the sodium channel Na(V)1.8 intracellular N-terminal region and annexin II light chain p11.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.

26 October 2018

1 reference

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Novel mutations in domain I of SCN5A cause Brugada syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3073365

Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity

26 October 2018

1 reference

12 December 2020

Fever and Brugada syndrome

1 reference

12 December 2020

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

1 reference

12 December 2020

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

12 December 2020

10.1016/J.HRTHM.2009.04.034

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19632629%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

19632629

1 reference