A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
Sign Up to like & getrecommendations! Published in 2018 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.03.003
Abstract: Key Teaching Points • Electrocardiograms in patients with Timothy syndrome patients sometimes present T-wave depolarization pattern similar to long QT syndrome type 3, such as a late-onset peaked T wave. • We identified a novel… read more here.
Keywords: timothy syndrome; cacna1c mutation; novel cacna1c; without syndactyly ... See more keywords