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

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Dokumenter

Kirstine Callø, Marwan M. Refaat, Søren Grubb, Julianne Wojciak, Joan Campagna, Nancy Mutsaers Thomsen, Robert L. Nussbaum, Melvin M Scheinman, Nicole Schmitt

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.
OriginalsprogEngelsk
TidsskriftCirculation. Arrhythmia and Electrophysiology (Online)
Vol/bind6
Udgave nummer1
Sider (fra-til)177-184
Antal sider8
ISSN1941-3084
DOI
StatusUdgivet - 2013

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