IndraLab

Statements

KCNQ1 activates LQTS1. 7 / 7
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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)."
25820318
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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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"Several missense variants are reported to cause RWS by a dominant negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS."
28595573
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"Mutations in KCNQ1 and HERG cause the congenital LQTS1 XREF_BIBR and LQTS2, XREF_BIBR respectively."
20348026
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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]"
27663173
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"LQTS1 and LQTS2 are caused by pathogenic variants in the potassium channel genes KCNQ1 and KCNH2, respectively."
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"LQTS type 1 (LQTS1) is caused by mutations in KCNQ1; Moretti et al. (2010) first introduced LQTS1 hiPSC-CM disease modeling."
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