Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome

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Authors

BÉBAROVÁ Markéta GEELEN Jan JONGBLOED Roselie ARENS Yvonne VOLDERS Paul

Year of publication 2006
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description A de novo mutaton K557E was detected in the C-terminus of KCNQ1 gene, coding the alpha-subunit of IKs channel, in a family with long QT syndrome. We observed a 110 mV shift of the voltage dependence of activation to the right, deceleration of activation and deceleration of deactivation of IKs.
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