LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation
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Year of publication | 2009 |
Type | Conference abstract |
MU Faculty or unit | |
Citation | BOULET, Inge, Markéta BÉBAROVÁ, Roel SPÄTJENS, Jan GEELEN, Roselie JONGBLOED, Yvonne ARENS, Joep GERAEDTS, Harry CRIJNS and Paul VOLDERS. LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation. 2009. ISSN 1547-5271. |
Description | The LQT1 mutation K557E causes IKs loss-of-function by altering activation and deactivating kinetics. cAMP-mediated stimulation of mutant IKs is preserved, but incapable of physiological adaptation, explaining long QT intervals in affected patients at baseline and abnormal QT accommodation during exercise. |