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.
Related projects:	Early diagnostics and treatment of cardiovascular diseases