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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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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
American Journal of Cardiology
volume
95
issue
3
pages
433 - 434
publisher
Excerpta Medica
external identifiers
  • wos:000226679800030
  • pmid:15670565
  • scopus:19944430549
  • pmid:15670565
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
2016-04-01 11:48:31
date last changed
2022-01-26 18:35:40
@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}},
  doi          = {{10.1016/j.amjcard.2004.09.054}},
  volume       = {{95}},
  year         = {{2005}},
}