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Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease

hal.structure.identifierUniversity of Science and Technology of China [Hefei] [USTC]
dc.contributor.authorLIU, Jie
hal.structure.identifierModélisation et calculs pour l'électrophysiologie cardiaque [CARMEN]
dc.contributor.authorBAYER, Jason
hal.structure.identifierYork University [Toronto]
dc.contributor.authorASCHAR-SOBBI, Roozbeh
hal.structure.identifierYork University [Toronto]
dc.contributor.authorWAUCHOP, Marianne
hal.structure.identifierUniversity Health Network [Toronto, ON, Canada]
dc.contributor.authorSPEARS, Danna
hal.structure.identifierUniversity Health Network [Toronto, ON, Canada]
dc.contributor.authorGOLLOB, Michael
hal.structure.identifierModélisation et calculs pour l'électrophysiologie cardiaque [CARMEN]
dc.contributor.authorVIGMOND, Edward
hal.structure.identifierYork University [Toronto]
dc.contributor.authorTSUSHIMA, Robert
hal.structure.identifierYork University [Toronto]
dc.contributor.authorBACKX, Peter
hal.structure.identifierYork University [Toronto]
dc.contributor.authorCHAUHAN, Vijay
dc.date.accessioned2024-04-04T02:51:28Z
dc.date.available2024-04-04T02:51:28Z
dc.date.issued2018-05-23
dc.identifier.issn1932-6203
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/191990
dc.description.abstractEnThe SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine.
dc.description.sponsorshipStimulation de surface étendue à faible intensité (WAYLESS): une nouvelle thérapie pour terminer les arythmies cardiaques létales - ANR-16-CE19-0009
dc.language.isoen
dc.publisherPublic Library of Science
dc.title.enComplex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease
dc.typeArticle de revue
dc.identifier.doi10.1371/journal.pone.0197273
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie/Cardiologie et système cardiovasculaire
bordeaux.journalPLoS ONE
bordeaux.pagee0197273
bordeaux.volume13
bordeaux.hal.laboratoriesInstitut de Mathématiques de Bordeaux (IMB) - UMR 5251*
bordeaux.issue5
bordeaux.institutionUniversité de Bordeaux
bordeaux.institutionBordeaux INP
bordeaux.institutionCNRS
bordeaux.peerReviewedoui
hal.identifierhal-02885639
hal.version1
hal.popularnon
hal.audienceInternationale
hal.origin.linkhttps://hal.archives-ouvertes.fr//hal-02885639v1
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=PLoS%20ONE&rft.date=2018-05-23&rft.volume=13&rft.issue=5&rft.spage=e0197273&rft.epage=e0197273&rft.eissn=1932-6203&rft.issn=1932-6203&rft.au=LIU,%20Jie&BAYER,%20Jason&ASCHAR-SOBBI,%20Roozbeh&WAUCHOP,%20Marianne&SPEARS,%20Danna&rft.genre=article


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