Recent molecular insights from mutated IKS channels in cardiac arrhythmia
M Dvir, A Peretz, Y Haitin, B Attali - Current opinion in pharmacology, 2014 - Elsevier
Highlights•Co-assembly of KCNQ1 and KCNE1 generates the repolarizing cardiac I KS
current.•Mutated I KS can lead to long or short QT, bradycardia and atrial fibrillation.•Gain-or
loss-of-function mutations are associated with pleiotropic clinical phenotypes.•Mutations
impair voltage-sensing function and modulation by PIP 2, CaM and PKA.Co-assembly of
KCNQ1 with KCNE1 generates the I KS potassium current that is vital for the proper
repolarization of the cardiac action potential. Mutations in either KCNQ1 or KCNE1 genes …
current.•Mutated I KS can lead to long or short QT, bradycardia and atrial fibrillation.•Gain-or
loss-of-function mutations are associated with pleiotropic clinical phenotypes.•Mutations
impair voltage-sensing function and modulation by PIP 2, CaM and PKA.Co-assembly of
KCNQ1 with KCNE1 generates the I KS potassium current that is vital for the proper
repolarization of the cardiac action potential. Mutations in either KCNQ1 or KCNE1 genes …
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