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Mutations in the HERG K+-Ion channel: A novel link between long QT syndrome and sudden infant death syndrome

Christiansen, M; Tonder, N; Larsen, LA; Andersen, PS; Simonsen, H; Oyen, N; Kanters, JK; Jacobsen, JR; Fosdal, I and Wettrell, Göran GWE LU , et al. (2005) In American Journal of Cardiology 95(3). p.433-434
Abstract
In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.
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type
Contribution to journal
publication status
published
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in
American Journal of Cardiology
volume
95
issue
3
pages
433 - 434
publisher
Excerpta Medica
external identifiers
  • wos:000226679800030
  • pmid:15670565
  • scopus:19944430549
ISSN
1879-1913
DOI
10.1016/j.amjcard.2004.09.054
language
English
LU publication?
yes
id
1a745e9e-272f-4b36-bf94-c10a955ae061 (old id 254686)
date added to LUP
2007-08-17 15:17:48
date last changed
2017-05-21 03:32:43
@article{1a745e9e-272f-4b36-bf94-c10a955ae061,
  abstract     = {In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.},
  author       = {Christiansen, M and Tonder, N and Larsen, LA and Andersen, PS and Simonsen, H and Oyen, N and Kanters, JK and Jacobsen, JR and Fosdal, I and Wettrell, Göran GWE and Kjeldsen, K},
  issn         = {1879-1913},
  language     = {eng},
  number       = {3},
  pages        = {433--434},
  publisher    = {Excerpta Medica},
  series       = {American Journal of Cardiology},
  title        = {Mutations in the HERG K+-Ion channel: A novel link between long QT syndrome and sudden infant death syndrome},
  url          = {http://dx.doi.org/10.1016/j.amjcard.2004.09.054},
  volume       = {95},
  year         = {2005},
}