LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation

• Authors: BOULET Inge; BÉBAROVÁ Markéta; SPÄTJENS Roel; GEELEN Jan; JONGBLOED Roselie; ARENS Yvonne; GERAEDTS Joep; CRIJNS Harry; VOLDERS Paul
• Year of publication: 2009
• Type: Conference abstract
• MU Faculty or unit: Faculty of Medicine
• 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.