Article
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.
Pediatric research - 1 Aug 1998
Ackerman M J, Schroeder J J, Berry R, Schaid D J, Porter C J, Michels V V, Thibodeau S N
Abstract excerpt
After identifying a 10-year-old boy with inherited long QT syndrome (LQTS) after a near-drowning that required defibrillation from torsades de pointes, evaluation of first degree relatives revealed a four-generation kindred comprising 26 individuals with four additional symptomatic and eight asym...
Topics
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 3
- Female
- Genetic Linkage
- Haplotypes
- Humans
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- Long QT Syndrome
- Male
- Mutation
- Near Drowning
- Pedigree
- Phenotype
- Potassium Channels
- Potassium Channels, Voltage-Gated
- Sequence Analysis, DNA
- Torsades de Pointes