Article
SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation.
Heart rhythm - 1 May 2012
Olesen Morten S, Holst Anders G, Svendsen Jesper Hastrup, Haunsø Stig, Tfelt-Hansen Jacob
Abstract excerpt
BACKGROUND: SCN1Bb encodes the β-subunit of the sodium channel. A mutation in SCN1Bb R214Q has recently been shown both to increase the Kv4.3 current and to decrease the sodium current. The variant was suggested to increase the susceptibility to Brugada syndrome (BrS). OBJECTIVE: To sequence a population of BrS and early-onset lone atrial fibrillation (AF) patients for the R214Q mutation in the SCN1Bb gene....
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