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Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.

Fernlund, Eva LU orcid ; 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:
author
; ; ; ; and
organization
publishing date
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
2025-10-14 11:44:45
@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}},
}