IndraLab

Statements

KCNQ1 activates LQTS1. 4 / 4
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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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"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."
33256261
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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."
35433691