Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1
β Scribed by Eric S. Silver; Leonardo Liberman; Wendy K. Chung; Henry M. Spotnitz; Jonathan M. Chen; Michael J. Ackerman; Christopher Moir; Allan J. Hordof; Robert H. Pass
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 394 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1383-875X
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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
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