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MeSH Review

Jervell-Lange Nielsen Syndrome

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Disease relevance of Jervell-Lange Nielsen Syndrome


High impact information on Jervell-Lange Nielsen Syndrome


Anatomical context of Jervell-Lange Nielsen Syndrome


Gene context of Jervell-Lange Nielsen Syndrome


  1. A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. Schmitt, N., Schwarz, M., Peretz, A., Abitbol, I., Attali, B., Pongs, O. EMBO J. (2000) [Pubmed]
  2. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Tyson, J., Tranebjaerg, L., Bellman, S., Wren, C., Taylor, J.F., Bathen, J., Aslaksen, B., Sørland, S.J., Lund, O., Malcolm, S., Pembrey, M., Bhattacharya, S., Bitner-Glindzicz, M. Hum. Mol. Genet. (1997) [Pubmed]
  3. Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1. Sanguinetti, M.C. J. Cardiovasc. Electrophysiol. (2000) [Pubmed]
  4. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Schulze-Bahr, E., Wang, Q., Wedekind, H., Haverkamp, W., Chen, Q., Sun, Y., Rubie, C., Hördt, M., Towbin, J.A., Borggrefe, M., Assmann, G., Qu, X., Somberg, J.C., Breithardt, G., Oberti, C., Funke, H. Nat. Genet. (1997) [Pubmed]
  5. Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. Casimiro, M.C., Knollmann, B.C., Ebert, S.N., Vary, J.C., Greene, A.E., Franz, M.R., Grinberg, A., Huang, S.P., Pfeifer, K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  6. The molecular basis of long QT syndrome and prospects for therapy. Wang, Q., Bowles, N.E., Towbin, J.A. Molecular medicine today. (1998) [Pubmed]
  7. Molecular biology and the prolonged QT syndromes. Towbin, J.A., Vatta, M. Am. J. Med. (2001) [Pubmed]
  8. Preoperative hypoglycaemia, propranolol and the Jervell and Lange-Nielsen syndrome. Baines, D.B., Murrell, D. Paediatric anaesthesia. (1999) [Pubmed]
  9. Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome. Rivas, A., Francis, H.W. Otol. Neurotol. (2005) [Pubmed]
  10. The long QT syndromes: genetic basis and clinical implications. Chiang, C.E., Roden, D.M. J. Am. Coll. Cardiol. (2000) [Pubmed]
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