Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
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Submitted manuscript, 1.95 MB, PDF document
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 language | English |
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Journal | Circulation. Arrhythmia and Electrophysiology (Online) |
Volume | 6 |
Issue number | 1 |
Pages (from-to) | 177-184 |
Number of pages | 8 |
ISSN | 1941-3084 |
DOIs | |
Publication status | Published - 2013 |
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ID: 45080561