Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Michael Christiansen; Paula L Hedley; Juliane Theilade; Birgitte Stoevring; Trond P Leren; Ole Eschen; Karina M Sørensen; Anne Tybjærg-Hansen; Lilian Bomme Ousager; Lisbeth N Pedersen; Ruth Frikke-Schmidt; Frederik Heurlin Aidt; Michael G Hansen; Jim Hansen; Poul Erik Bloch Thomsen; Egon Toft; Finn Lund Henriksen; Henning Bundgaard; Henrik Kjærulf Jensen; Jørgen K. Kanters

doi:10.1186/1471-2350-15-31

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Michael Christiansen, Paula L Hedley, Juliane Theilade, Birgitte Stoevring, Trond P Leren, Ole Eschen, Karina M Sørensen, Anne Tybjærg-Hansen, Lilian Bomme Ousager, Lisbeth N Pedersen, Ruth Frikke-Schmidt, Frederik Heurlin Aidt, Michael G Hansen, Jim Hansen, Poul Erik Bloch Thomsen, Egon Toft, Finn Lund Henriksen, Henning Bundgaard, Henrik Kjærulf Jensen, Jørgen K. Kanters

Research output: Contribution to journal › Journal article › Research › peer-review

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Abstract

Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A.

Original language	English
Article number	31
Journal	B M C Medical Genetics
Volume	15
Number of pages	11
ISSN	1471-2350
DOIs	https://doi.org/10.1186/1471-2350-15-31
Publication status	Published - 2014

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Christiansen, M., Hedley, P. L., Theilade, J., Stoevring, B., Leren, T. P., Eschen, O., Sørensen, K. M., Tybjærg-Hansen, A., Ousager, L. B., Pedersen, L. N., Frikke-Schmidt, R., Aidt, F. H., Hansen, M. G., Hansen, J., Thomsen, P. E. B., Toft, E., Henriksen, F. L., Bundgaard, H., Jensen, H. K., & Kanters, J. K. (2014). Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. B M C Medical Genetics, 15, Article 31. https://doi.org/10.1186/1471-2350-15-31

@article{2c586f5d5556446aa966c1d8aa569631,

title = "Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2",

abstract = "Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A.",

author = "Michael Christiansen and Hedley, {Paula L} and Juliane Theilade and Birgitte Stoevring and Leren, {Trond P} and Ole Eschen and S{\o}rensen, {Karina M} and Anne Tybj{\ae}rg-Hansen and Ousager, {Lilian Bomme} and Pedersen, {Lisbeth N} and Ruth Frikke-Schmidt and Aidt, {Frederik Heurlin} and Hansen, {Michael G} and Jim Hansen and Thomsen, {Poul Erik Bloch} and Egon Toft and Henriksen, {Finn Lund} and Henning Bundgaard and Jensen, {Henrik Kj{\ae}rulf} and Kanters, {J{\o}rgen K.}",

year = "2014",

doi = "10.1186/1471-2350-15-31",

language = "English",

volume = "15",

journal = "B M C Medical Genetics",

issn = "1471-2350",

publisher = "BioMed Central",

}

Christiansen, M, Hedley, PL, Theilade, J, Stoevring, B, Leren, TP, Eschen, O, Sørensen, KM, Tybjærg-Hansen, A, Ousager, LB, Pedersen, LN, Frikke-Schmidt, R, Aidt, FH, Hansen, MG, Hansen, J, Thomsen, PEB, Toft, E, Henriksen, FL, Bundgaard, H, Jensen, HK & Kanters, JK 2014, 'Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2', B M C Medical Genetics, vol. 15, 31. https://doi.org/10.1186/1471-2350-15-31

TY - JOUR

T1 - Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

AU - Christiansen, Michael

AU - Hedley, Paula L

AU - Theilade, Juliane

AU - Stoevring, Birgitte

AU - Leren, Trond P

AU - Eschen, Ole

AU - Sørensen, Karina M

AU - Tybjærg-Hansen, Anne

AU - Ousager, Lilian Bomme

AU - Pedersen, Lisbeth N

AU - Frikke-Schmidt, Ruth

AU - Aidt, Frederik Heurlin

AU - Hansen, Michael G

AU - Hansen, Jim

AU - Thomsen, Poul Erik Bloch

AU - Toft, Egon

AU - Henriksen, Finn Lund

AU - Bundgaard, Henning

AU - Jensen, Henrik Kjærulf

AU - Kanters, Jørgen K.

PY - 2014

Y1 - 2014

N2 - Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A.

AB - Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A.

U2 - 10.1186/1471-2350-15-31

DO - 10.1186/1471-2350-15-31

M3 - Journal article

SN - 1471-2350

VL - 15

JO - B M C Medical Genetics

JF - B M C Medical Genetics

M1 - 31

ER -

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

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