Article
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Dec 2014
Fukuyama Megumi, Wang Qi, Kato Koichi, Ohno Seiko, Ding Wei-Guang, Toyoda Futoshi, Itoh Hideki, Kimura Hiromi, Makiyama Takeru, Ito Makoto, Matsuura Hiroshi, Horie Minoru
Abstract excerpt
AIMS: CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although the frequency of patients with LQT8 exhibiting only QT prolongation is unknown. This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. METHODS AND RESULTS:...
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