(Q36399631)

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing (English)

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Europe PubMed Central

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4 February 2020

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Argelia Medeiros-domingo

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Michael J Ackerman

5

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Michael J Ackerman

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Europe PubMed Central

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4 February 2020

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David J Tester

1

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4 February 2020

Melissa L Will

3

1 reference

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4 February 2020

Carla M Haglund

4

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Europe PubMed Central

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4 February 2020

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1 June 2012

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4 February 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

87

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

524-539

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Key role of the molecular autopsy in sudden unexpected death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

State of the art in forensic investigation of sudden cardiac death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading [...]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

High prevalence of four long QT syndrome founder mutations in the Finnish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Guidelines for autopsy investigation of sudden cardiac death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

The role of molecular autopsy in unexplained sudden cardiac death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Genotype-phenotype relationships 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=3498431

30 September 2017

Sudden cardiac death without structural heart disease: update on the long QT and Brugada syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Postmortem molecular screening in unexplained sudden death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Sudden death in patients without structural heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Causes of sudden cardiac death in young Australians.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Sudden unexplained death among persons 1-35 years old.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Molecular autopsy of sudden unexplained death in the young

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Sudden cardiac death in young people with apparently normal heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Sudden cardiac death with apparently normal heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Sudden death from cardiac causes in children and young adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

30 September 2017

Cardiac channelopathies: it's in the genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

28 June 2018

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Cardiac sodium channel dysfunction in sudden infant death syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Postmortem molecular analysis in victims of sudden unexplained death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498431

21 September 2018

Brugada syndrome and sudden cardiac death in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden cardiac death

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden death in the young

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Posthumous diagnosis of long QT syndrome from neonatal screening cards

1 reference

https://pubmed.ncbi.nlm.nih.gov/22677073

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.MAYOCP.2012.02.017

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22677073%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

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