Article
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
Human genetics - 1 Sept 1997
van den Berg M H, Wilde A A, Robles de Medina E O, Meyer H, Geelen J L, Jongbloed R J, Wellens H J, Geraedts J P
Abstract excerpt
The Romano Ward long QT syndrome (LQTS) has an autosomal dominant mode of inheritance. Patients suffer from syncopal attacks often resulting in sudden cardiac death. The main diagnostic parameter is a prolonged QT(c) interval as judged by electro-cardiographic investigation. LQTS is a genetically...
Topics
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Humans
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- Long QT Syndrome
- Male
- Mutation
- Pedigree
- Potassium Channels
- Potassium Channels, Voltage-Gated