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SCN5A activates LQTS3. 6 / 6
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"However, most pathogenic variants are still identified in the three first described genes : KCNQ1, KCNH2, and SCN5A [XREF_BIBR, XREF_BIBR], causing LQTS1, LQTS2, and LQTS3, respectively."
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"XREF_BIBR, XREF_BIBR, XREF_BIBR Late I Na can be enhanced by congenital mutations in SCN5A that cause LQTS3, by SCN5A polymorphisms (Y1102 and Y1103), or by acquired cardiac pathologies such as heart failure, myocardial hypertrophy, and ischemia."
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"40 Owing to initial concerns about the proarrhythmic effects of bradycardia and higher rate of breakthrough cardiac events, 41 patients with SCN5A mediated LQTS3 are typically treated more aggressively with implantable cardioverter-defibrillators (ICDs)."
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"The major subtypes are LQTS1, which is caused by mutations in KCNQ1 and results in reduced I Ks current; LQTS2, which is caused by mutations in KCNH2 and results in reduced I Kr current; and LQTS3, wh[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"LQTS3 is the variant of LQTS caused by mutations in SCN5A and is associated with sudden death during sleep [ 16 ]."
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"However, the three main subtypes (LQTS1, caused by mutations in KCNQ1, LQTS2 caused by mutations in KCNH2, which encodes the hERG K+ channel, and LQTS3 caused by mutations in SCN5a) account for> 95% of genotype confirmed cases (40-45, 35-40 and 5-10%, respectively; Splawski et al. 2000)."
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