IndraLab

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Sodium(1+) activates SCN5A. 3 / 3
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"Gain-of-function mutations in sodium channel subunits lead to LQTS types 3 (SCN5A) and 10 (SCN4B), and in the L-type calcium channel produces LQT type 8 (CACNA1C, Timothy syndrome)."
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"Risk stratification and genotype-phenotype correlations are important issues to consider while approaching these patients; nevertheless, these topics are beyond the scope of this review.Both LQT1 and LQT2 are associated with genes encoding potassium voltage-gated channels involved in the repolarization of heart myocytes during their action potential, while LQT3 is caused by mutations in a sodium voltage-gated channel [18]."
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"LQTS type 3, caused by gain-of-function mutations in the sodium ion channel encoding gene SCN5A, was also recapitulated in iPSC-CMs by decreased voltage dependent inactivation of sodium channels."
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