IndraLab

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SCN5A activates SSS. 3 / 3
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"Such genetic mutations include genes involved in sodium channels (3) and potassium channels (4), as well as ANK2 (5), HCN4 (6), and myosin heavy chain genes and their regulator genes (7), among which SCN5A (a sodium channel gene) is a common cause of familial SSS."
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"Marfan syndrome (MFS)] and non-syndromic,3 primary pulmonary hypertension (PPH);4 AF.5 Autosomal recessive CV diseases are less common, but include rare CMPs such as atrial dilated cardiomyopathy (ADCM) caused by homozygous mutations in NPPA gene;6 sick sinus syndrome (SSS) caused by mutations in SCN5A gene;7 8 ATS,9 lysosomal storage diseases involving heart and vessels:10 parental consanguinity or geographically isolated populations should be explored."
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"However, some SCN5A gain-of-function mutations cause SSS by prolonging the sinus node action potential and disrupting its complete repolarization, which in turn, leads to a reduction in sinus rate [60[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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