The long QT syndrome (LQT) is an inherited cardiac disorder that can cause sudden cardiac death among apparently healthy young individuals due to malignant ventricular arrhythmias. LQT was found to be caused by mutations in four genes LQT1, LQT2, LQT3 and LQT5, and linkage was reported for an additi
A novel SCN5A mutation associated with the linker between III and IV domains of Nav1.5 in a neonate with fatal long QT syndrome
β Scribed by Kenichiro Yamamura; Jun Muneuchi; Kiyoshi Uike; Kazuyuki Ikeda; Hirosuke Inoue; Yasushi Takahata; Yuichi Shiokawa; Yukako Yoshikane; Takeru Makiyama; Minoru Horie; Toshiro Hara
- Book ID
- 116548195
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 340 KB
- Volume
- 145
- Category
- Article
- ISSN
- 0167-5273
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Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). Functional studies of SCN5A mutations in the linker between domains III and IV, and more recently the C-terminus, have been shown to alter inactivation
Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c