Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.
Fernlund, Eva LU
; Lundin, Catarina
LU
; Hertervig, Eva
LU
; Kongstad Rasmussen, Ole
LU
; Alders, M
and Platonov, Pyotr
LU
(2013)
In Annals of Noninvasive Electrocardiology
18(5).
p.471-478
- Abstract
- Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ2 gene.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4065661
- author
- Fernlund, Eva
LU
; Lundin, Catarina
LU
; Hertervig, Eva
LU
; Kongstad Rasmussen, Ole
LU
; Alders, M
and Platonov, Pyotr
LU
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Annals of Noninvasive Electrocardiology
- volume
- 18
- issue
- 5
- pages
- 471 - 478
- publisher
- Wiley-Blackwell
- external identifiers
-
- wos:000324522300009
- pmid:24047492
- scopus:84884504354
- pmid:24047492
- ISSN
- 1082-720X
- DOI
- 10.1111/anec.12074
- language
- English
- LU publication?
- yes
- id
- b1302146-ebfd-4ef0-81c5-d1715dc24d5e (old id 4065661)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24047492?dopt=Abstract
- date added to LUP
- 2016-04-01 10:41:47
- date last changed
- 2022-04-04 20:27:54
@article{b1302146-ebfd-4ef0-81c5-d1715dc24d5e,
abstract = {{Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ2 gene.}},
author = {{Fernlund, Eva and Lundin, Catarina and Hertervig, Eva and Kongstad Rasmussen, Ole and Alders, M and Platonov, Pyotr}},
issn = {{1082-720X}},
language = {{eng}},
number = {{5}},
pages = {{471--478}},
publisher = {{Wiley-Blackwell}},
series = {{Annals of Noninvasive Electrocardiology}},
title = {{Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.}},
url = {{http://dx.doi.org/10.1111/anec.12074}},
doi = {{10.1111/anec.12074}},
volume = {{18}},
year = {{2013}},
}