IndraLab

Statements

SCN5A activates CCD. 3 / 3
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"Notably, dozens of other severe loss-of-function mutations in SCN5A are known to cause BrS, CCD, or both XREF_BIBR."
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"Taking together, the identified SCN5A p. 1493delK mutation leads to CCD, ventricular arrhythmias and SCD, in the absence of signs of BrS or LQTS."
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"Mutations in SCN5A, encoding the alpha-subunit of the human cardiac sodium channel (hNa v 1.5), have been reported to cause overlapping syndromes including Brugada syndrome (BrS) XREF_BIBR, LQT3 form of the long-QT syndrome XREF_BIBR, cardiac conduction disease (CCD, also referred to as Lev-Lenegre disease) XREF_BIBR, congenital sick sinus syndrome (SSS) XREF_BIBR, and/or atrial fibrillation XREF_BIBR, that can manifest individually or together."
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