IndraLab

Statements

Mutated SCN5A activates LQT3. 7 / 7
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"For instance, SCN5A mutations can cause not only LQT3 and BrS, but also cardiac conduction disease, sick sinus syndrome, atrial fibrillation, or dilated cardiomyopathy."
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"The realization that SCN5A mutations producing LQT3 have a " gain-of-function " effect has lent support to our early suggestion to test sodium channel blockers, and especially mexiletine, as possible adjuvants in the management of LQT3 patients."
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"Interestingly, SCN5A mutations also cause LQT3, and some specific " overlap " mutations have been implicated in both BrS and LQT3."
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"The LQT3 form of this disease is caused by mutations of the SCN5A sodium-channel gene."
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"The LQT3 phenotype is only caused by mutations of the SCN5A (LQT3) gene (so far)."
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"Compound SCN5A mutations causing LQT3 are uncommon, and in some instances one mutation rescues the Na + channel abnormalities of the other [XREF_BIBR - XREF_BIBR]."
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"SCN5A mutations producing LQT3 generally exhibit a disruption in channel inactivation leading to an increase in persistent current, which has pathophysiological relevance during the plateau phase of the action potential."
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