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

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Christiansen, Michael ; Tønder, Niels ; Larsen, Lars A ; Andersen, Paal S ; Simonsen, Henrik ; Oyen, Nina ; Kanters, Jørgen K ; Jacobsen, Joes R ; Fosdal, Inger ; Wettrell, Gøran ; Kjeldsen, Keld. / Mutations in the HERG K+-ion channel : a novel link between long QT syndrome and sudden infant death syndrome. In: The American journal of cardiology. 2005 ; Vol. 95, No. 3. pp. 433-4.

Bibtex

@article{0fe552216fed492892427620c02fef4f,
title = "Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome",
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.",
keywords = "DNA-Binding Proteins/genetics, ERG1 Potassium Channel, Ether-A-Go-Go Potassium Channels, Humans, Infant, Long QT Syndrome/genetics, Mutation/genetics, Potassium Channels/genetics, Sudden Infant Death/genetics, Trans-Activators/genetics, Transcriptional Regulator ERG",
author = "Michael Christiansen and Niels T{\o}nder and Larsen, {Lars A} and Andersen, {Paal S} and Henrik Simonsen and Nina Oyen and Kanters, {J{\o}rgen K} and Jacobsen, {Joes R} and Inger Fosdal and G{\o}ran Wettrell and Keld Kjeldsen",
year = "2005",
doi = "10.1016/j.amjcard.2004.09.054",
language = "English",
volume = "95",
pages = "433--4",
journal = "American Journal of Cardiology",
issn = "0002-9149",
publisher = "Excerpta Medica, Inc",
number = "3",

}

RIS

TY - JOUR

T1 - Mutations in the HERG K+-ion channel

T2 - a novel link between long QT syndrome and sudden infant death syndrome

AU - Christiansen, Michael

AU - Tønder, Niels

AU - Larsen, Lars A

AU - Andersen, Paal S

AU - Simonsen, Henrik

AU - Oyen, Nina

AU - Kanters, Jørgen K

AU - Jacobsen, Joes R

AU - Fosdal, Inger

AU - Wettrell, Gøran

AU - Kjeldsen, Keld

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

KW - DNA-Binding Proteins/genetics

KW - ERG1 Potassium Channel

KW - Ether-A-Go-Go Potassium Channels

KW - Humans

KW - Infant

KW - Long QT Syndrome/genetics

KW - Mutation/genetics

KW - Potassium Channels/genetics

KW - Sudden Infant Death/genetics

KW - Trans-Activators/genetics

KW - Transcriptional Regulator ERG

U2 - 10.1016/j.amjcard.2004.09.054

DO - 10.1016/j.amjcard.2004.09.054

M3 - Journal article

C2 - 15670565

VL - 95

SP - 433

EP - 434

JO - American Journal of Cardiology

JF - American Journal of Cardiology

SN - 0002-9149

IS - 3

ER -

ID: 55071856