Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. / Callø, Kirstine; Refaat, Marwan M.; Grubb, Søren; Wojciak, Julianne; Campagna, Joan; Thomsen, Nancy Mutsaers; Nussbaum, Robert L.; Scheinman, Melvin M; Schmitt, Nicole.

In: Circulation. Arrhythmia and Electrophysiology (Online), Vol. 6, No. 1, 2013, p. 177-184.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Callø, K, Refaat, MM, Grubb, S, Wojciak, J, Campagna, J, Thomsen, NM, Nussbaum, RL, Scheinman, MM & Schmitt, N 2013, 'Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome', Circulation. Arrhythmia and Electrophysiology (Online), vol. 6, no. 1, pp. 177-184. https://doi.org/10.1161/CIRCEP.112.974220

APA

Callø, K., Refaat, M. M., Grubb, S., Wojciak, J., Campagna, J., Thomsen, N. M., ... Schmitt, N. (2013). Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circulation. Arrhythmia and Electrophysiology (Online), 6(1), 177-184. https://doi.org/10.1161/CIRCEP.112.974220

Vancouver

Callø K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM et al. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circulation. Arrhythmia and Electrophysiology (Online). 2013;6(1):177-184. https://doi.org/10.1161/CIRCEP.112.974220

Author

Callø, Kirstine ; Refaat, Marwan M. ; Grubb, Søren ; Wojciak, Julianne ; Campagna, Joan ; Thomsen, Nancy Mutsaers ; Nussbaum, Robert L. ; Scheinman, Melvin M ; Schmitt, Nicole. / Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. In: Circulation. Arrhythmia and Electrophysiology (Online). 2013 ; Vol. 6, No. 1. pp. 177-184.

Bibtex

@article{9e84e18232db42eab868981d6bc1f1fe,
title = "Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome",
abstract = "Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function.",
author = "Kirstine Call{\o} and Refaat, {Marwan M.} and S{\o}ren Grubb and Julianne Wojciak and Joan Campagna and Thomsen, {Nancy Mutsaers} and Nussbaum, {Robert L.} and Scheinman, {Melvin M} and Nicole Schmitt",
year = "2013",
doi = "10.1161/CIRCEP.112.974220",
language = "English",
volume = "6",
pages = "177--184",
journal = "Circulation: Arrhythmia and Electrophysiology",
issn = "1941-3149",
publisher = "Lippincott Williams & Wilkins",
number = "1",

}

RIS

TY - JOUR

T1 - Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome

AU - Callø, Kirstine

AU - Refaat, Marwan M.

AU - Grubb, Søren

AU - Wojciak, Julianne

AU - Campagna, Joan

AU - Thomsen, Nancy Mutsaers

AU - Nussbaum, Robert L.

AU - Scheinman, Melvin M

AU - Schmitt, Nicole

PY - 2013

Y1 - 2013

N2 - Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function.

AB - Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function.

U2 - 10.1161/CIRCEP.112.974220

DO - 10.1161/CIRCEP.112.974220

M3 - Journal article

VL - 6

SP - 177

EP - 184

JO - Circulation: Arrhythmia and Electrophysiology

JF - Circulation: Arrhythmia and Electrophysiology

SN - 1941-3149

IS - 1

ER -

ID: 45080561