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

Research output: Research - peer-reviewJournal article

Documents

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.
Original languageEnglish
JournalCirculation. Arrhythmia and Electrophysiology (Online)
Volume6
Issue number1
Pages (from-to)177-184
Number of pages8
ISSN1941-3084
DOIs
StatePublished - 2013

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