Mutations in the HERG K+-Ion channel: A novel link between long QT syndrome and sudden infant death syndrome
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/254686
- author
- organization
- publishing date
- 2005
- 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}}, }