IndraLab

Statements

LQT2 activates KCNH2. 3 / 3
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"LQT2 is caused by loss of function (LOF) mutations in KCNH2 (also known as the human Ether-a-go-go-Related Gene or hERG)."
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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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"Like noncardiac organ phenotypes observed in other LQTS-susceptibility genes such as KCNQ1 and deafness and SCN5A and gastrointestinal symptoms, this novel LQT2-epilepsy association raises the possibility that LQT2 causing perturbations in the KCNH2 encoded potassium channel may confer susceptibility for recurrent seizure activity."
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