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Long QT syndromes (LQTS) are inherited diseases involving mutations to genes encoding a number of cardiac ion channels and a membrane adaptor protein. The MinK protein is a cardiac K-channel accessory subunit encoded by the KCNE1 gene, mutations of which are associated with the LQT5 form of LQTS.The purpose of this study was to search for the KCNE1 mutations and clarify the function of those mutations...
Atrial fibrillation (AF) and long QT syndrome (LQTS) are cardiac arrhythmia disorders that have been related to dysfunction of the voltage-gated potassium channel subunit Kv7.1 encoded by the KCNQ1 gene.The purpose of this study was functional assessment of a mutation in Kv7.1 identified in a proband with permanent AF and prolonged QT interval. We investigated whether this KCNQ1 missense mutation...
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