Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
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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 journal › Journal article › Research › peer-review
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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
C2 - 23424222
VL - 6
SP - 177
EP - 184
JO - Circulation: Arrhythmia and Electrophysiology
JF - Circulation: Arrhythmia and Electrophysiology
SN - 1941-3149
IS - 1
ER -
ID: 45080561