Article
A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.
Heart rhythm - 1 May 2012
Hu Dan, Barajas-Martínez Hector, Medeiros-Domingo Argelia, Crotti Lia, Veltmann Christian, Schimpf Rainer, Urrutia Janire, Alday Aintzane, Casis Oscar, Pfeiffer Ryan, Burashnikov Elena, Caceres Gabriel, Tester David J, Wolpert Christian, Borggrefe Martin, Schwartz Peter, Ackerman Michael J, Antzelevitch Charles
Abstract excerpt
BACKGROUND: Cardiac sodium channel β-subunit mutations have been associated with several inherited cardiac arrhythmia syndromes. OBJECTIVE: To identify and characterize variations in SCN1Bb associated with Brugada syndrome (BrS) and sudden infant death syndrome (SIDS). METHODS: All known exons and intron borders of the BrS-susceptibility genes were amplified and sequenced in both directions. Wild type (WT) and...
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