Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome

Detalhes bibliográficos
Autor(a) principal: Santos, L. F.
Data de Publicação: 2012
Outros Autores: Rodrigues, B., Moreira, D., Correia, E., Nunes, L., Costa, A., Elvas, L., Pereira, T., Machado, J. C., Castedo, S., Henriques, C., Matos, A., Santos, J. O.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10400.19/4382
Resumo: Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.
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spelling Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndromeBrugada SyndromeSCN5A mutationECGSAECGDiagnostic criteriaSudden cardiac deathBrugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.Instituto Politécnico de ViseuSantos, L. F.Rodrigues, B.Moreira, D.Correia, E.Nunes, L.Costa, A.Elvas, L.Pereira, T.Machado, J. C.Castedo, S.Henriques, C.Matos, A.Santos, J. O.2017-02-03T08:42:21Z20122012-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.19/4382eng10.1093/europace/eur421info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-06T14:01:46Zoai:repositorio.ipv.pt:10400.19/4382Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T00:13:14.016705Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
title Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
spellingShingle Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
Santos, L. F.
Brugada Syndrome
SCN5A mutation
ECG
SAECG
Diagnostic criteria
Sudden cardiac death
title_short Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
title_full Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
title_fullStr Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
title_full_unstemmed Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
title_sort Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
author Santos, L. F.
author_facet Santos, L. F.
Rodrigues, B.
Moreira, D.
Correia, E.
Nunes, L.
Costa, A.
Elvas, L.
Pereira, T.
Machado, J. C.
Castedo, S.
Henriques, C.
Matos, A.
Santos, J. O.
author_role author
author2 Rodrigues, B.
Moreira, D.
Correia, E.
Nunes, L.
Costa, A.
Elvas, L.
Pereira, T.
Machado, J. C.
Castedo, S.
Henriques, C.
Matos, A.
Santos, J. O.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto Politécnico de Viseu
dc.contributor.author.fl_str_mv Santos, L. F.
Rodrigues, B.
Moreira, D.
Correia, E.
Nunes, L.
Costa, A.
Elvas, L.
Pereira, T.
Machado, J. C.
Castedo, S.
Henriques, C.
Matos, A.
Santos, J. O.
dc.subject.por.fl_str_mv Brugada Syndrome
SCN5A mutation
ECG
SAECG
Diagnostic criteria
Sudden cardiac death
topic Brugada Syndrome
SCN5A mutation
ECG
SAECG
Diagnostic criteria
Sudden cardiac death
description Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.
publishDate 2012
dc.date.none.fl_str_mv 2012
2012-01-01T00:00:00Z
2017-02-03T08:42:21Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.19/4382
url http://hdl.handle.net/10400.19/4382
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1093/europace/eur421
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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