𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The genetic basis of long QT and short QT syndromes: A mutation update

✍ Scribed by Paula L. Hedley; Poul Jørgensen; Sarah Schlamowitz; Romilda Wangari; Johanna Moolman-Smook; Paul A. Brink; Jørgen K. Kanters; Valerie A. Corfield; Michael Christiansen

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
544 KB
Volume
30
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The genetic basis of Brugada syndrome: A
The genetic basis of Brugada syndrome: A mutation update
✍ Paula L. Hedley; Poul Jørgensen; Sarah Schlamowitz; Johanna Moolman-Smook; Jørge 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 373 KB

Brugada syndrome (BrS) is a condition characterized by a distinct ST-segment elevation in the right precordial leads of the electrocardiogram and, clinically, by an increased risk of cardiac arrhythmia and sudden death. The condition predominantly exhibits an autosomal dominant pattern of inheritanc

KCNQ1 and KCNH2 mutations associated wit
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population
✍ Wenling Liu; Junguo Yang; Dayi Hu; Cailian Kang; Cuilan Li; Shuoyan Zhang; Ping 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 285 KB

The long QT syndrome (LQTS) is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms (ECGs), syncope and sudden death caused by a specific ventricular tachyarrhythmia known as torsade de pointes. LQTS is caused by mutations in ion channel genes including the cardi

Identification of a new SCN5A mutation,
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome
✍ Jesaia Benhorin; Maya Goldmit; Jean W. MacCluer; John Blangero; Ruth Goffen; Aye 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

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

Mutations at KCNQ1 and an unknown locus
Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing
✍ Kim M. Summers; Nilesh J. Bokil; Foong Teng Lu; Jiun Tsuen Low; John M. Baisden; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 241 KB

## Abstract A large Australian family affected with long QT syndrome (LQTS) was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in __KCNQ1__ was found in 12 affected individuals and 1 unaffected infant but absent