IndraLab

Statements

SCN5A activates LQT3. 9 / 9
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"LQT1, LQT2, and LQT3 are caused by mutations in KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A (LQT3), which account for approximately 90% of genotyped LQTS patients."
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"Mutations in SCN5A on chromosome 3p21, encoding the human heart voltage gated sodium-channel alpha-subunit, cause LQT3."
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"LQT1 and LQT2 are caused due to mutations in the potassium channel genes, KCNQ1 (OMIM # 607542) and KCNH2 (OMIM # 152427) respectively, while LQT3 is caused by mutations in a sodium channel gene, SCN5A (OMIM # 600163) XREF_BIBR."
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"LQT3 is caused by gain of function mutations in SCN5A 4 and increased I Na current during the plateau and late phase of the action potential (AP)."
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"For instance, mutated Cav3 disrupts SCN5A function causing LQT3 and arrhythmias."
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"LQT3 is caused by defects in the voltage dependent sodium channel gene SCN5A."
19185812
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"Among them most common are LQT1, LQT2, and LQT3, caused by mutations in KCNQ1, KCNH2, and SCN5A genes, respectively (Splawski etal."
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"Gain-of-function mutations in the cardiac sodium channel gene Scn5a can cause long QT syndrome 3 (LQT3) and arrhythmic death by torsades de pointes (TdP)."
20110334
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"LQT3 is caused by mutations in the gene SCN5A, which encodes the alpha-subunit for the sodium channel."
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