Article
[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].
Zeitschrift fur Kardiologie - 1 May 2002
Mönnig G, Schulze-Bahr E, Wedekind H, Eckardt L, Kirchhof P, Funke H, Kotthoff S, Vogt J, Assmann G, Breithardt G, Haverkamp W
Abstract excerpt
In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-W syndrome, but also by congenital deafness. Recently, defect alleles in the genes for KCNQ1 and KCNE1 have been identified in patients with the J-LN...
Topics
- DNA Mutational Analysis
- Humans
- Jervell-Lange Nielsen Syndrome
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- Long QT Syndrome
- Mutation, Missense
- Pedigree
- Phenotype
- Potassium Channels
- Potassium Channels, Voltage-Gated
- Prognosis