The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases

Bo Gregers Winkel; Maiken Kudahl Larsen; Knut Erik Berge; Trond Paul Leren; Peter Henrik Nissen; Morten Salling Olesen; Mads Vilhelm Hollegaard; Thomas Jespersen; Lei Yuan; Nikolaj Børty Nielsen; Stig Haunsø; Jesper Hastrup Svendsen; Yinman Wang; Ingrid Bayer Kristensen; Henrik Kjaerulf Jensen; Jacob Tfelt-Hansen; Jytte Banner

doi:10.1111/j.1540-8167.2012.02371.x

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases

Bo Gregers Winkel, Maiken Kudahl Larsen, Knut Erik Berge, Trond Paul Leren, Peter Henrik Nissen, Morten Salling Olesen, Mads Vilhelm Hollegaard, Thomas Jespersen, Lei Yuan, Nikolaj Børty Nielsen, Stig Haunsø, Jesper Hastrup Svendsen, Yinman Wang, Ingrid Bayer Kristensen, Henrik Kjaerulf Jensen, Jacob Tfelt-Hansen, Jytte Banner

67 Citationer (Scopus)

Abstract

Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing. These deaths potentially may represent the worst of cases, thus possibly overestimating the prevalence of potentially disease causing mutations in the 3 major long-QT syndrome (LQTS) genes in the general population. We therefore wanted to investigate the prevalence of mutations in an unselected population of sudden unexplained deaths in a nationwide setting.

Originalsprog	Engelsk
Tidsskrift	Journal of Cardiovascular Electrophysiology
Vol/bind	23
Udgave nummer	10
Sider (fra-til)	1092-8
Antal sider	7
ISSN	1045-3873
DOI	https://doi.org/10.1111/j.1540-8167.2012.02371.x
Status	Udgivet - 2012

Adgang til dokumentet

10.1111/j.1540-8167.2012.02371.x

Citationsformater

Winkel, B. G., Larsen, M. K., Berge, K. E., Leren, T. P., Nissen, P. H., Olesen, M. S., Hollegaard, M. V., Jespersen, T., Yuan, L., Nielsen, N. B., Haunsø, S., Svendsen, J. H., Wang, Y., Kristensen, I. B., Jensen, H. K., Tfelt-Hansen, J., & Banner, J. (2012). The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. Journal of Cardiovascular Electrophysiology, 23(10), 1092-8. https://doi.org/10.1111/j.1540-8167.2012.02371.x

Winkel, BG, Larsen, MK, Berge, KE, Leren, TP, Nissen, PH, Olesen, MS, Hollegaard, MV, Jespersen, T, Yuan, L, Nielsen, NB, Haunsø, S , Svendsen, JH, Wang, Y, Kristensen, IB, Jensen, HK, Tfelt-Hansen, J & Banner, J 2012, 'The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases', Journal of Cardiovascular Electrophysiology, bind 23, nr. 10, s. 1092-8. https://doi.org/10.1111/j.1540-8167.2012.02371.x

@article{762826ca64074fc4b592a90b46a96a71,

title = "The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases",

abstract = "Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing. These deaths potentially may represent the worst of cases, thus possibly overestimating the prevalence of potentially disease causing mutations in the 3 major long-QT syndrome (LQTS) genes in the general population. We therefore wanted to investigate the prevalence of mutations in an unselected population of sudden unexplained deaths in a nationwide setting.",

author = "Winkel, {Bo Gregers} and Larsen, {Maiken Kudahl} and Berge, {Knut Erik} and Leren, {Trond Paul} and Nissen, {Peter Henrik} and Olesen, {Morten Salling} and Hollegaard, {Mads Vilhelm} and Thomas Jespersen and Lei Yuan and Nielsen, {Nikolaj B{\o}rty} and Stig Hauns{\o} and Svendsen, {Jesper Hastrup} and Yinman Wang and Kristensen, {Ingrid Bayer} and Jensen, {Henrik Kjaerulf} and Jacob Tfelt-Hansen and Jytte Banner",

note = "{\textcopyright} 2012 Wiley Periodicals, Inc.",

year = "2012",

doi = "10.1111/j.1540-8167.2012.02371.x",

language = "English",

volume = "23",

pages = "1092--8",

journal = "Journal of Cardiovascular Electrophysiology",

issn = "1045-3873",

publisher = "Wiley-Blackwell Publishing, Inc",

number = "10",

}

TY - JOUR

T1 - The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases

AU - Winkel, Bo Gregers

AU - Larsen, Maiken Kudahl

AU - Berge, Knut Erik

AU - Leren, Trond Paul

AU - Nissen, Peter Henrik

AU - Olesen, Morten Salling

AU - Hollegaard, Mads Vilhelm

AU - Jespersen, Thomas

AU - Yuan, Lei

AU - Nielsen, Nikolaj Børty

AU - Haunsø, Stig

AU - Svendsen, Jesper Hastrup

AU - Wang, Yinman

AU - Kristensen, Ingrid Bayer

AU - Jensen, Henrik Kjaerulf

AU - Tfelt-Hansen, Jacob

AU - Banner, Jytte

PY - 2012

Y1 - 2012

N2 - Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing. These deaths potentially may represent the worst of cases, thus possibly overestimating the prevalence of potentially disease causing mutations in the 3 major long-QT syndrome (LQTS) genes in the general population. We therefore wanted to investigate the prevalence of mutations in an unselected population of sudden unexplained deaths in a nationwide setting.

AB - Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing. These deaths potentially may represent the worst of cases, thus possibly overestimating the prevalence of potentially disease causing mutations in the 3 major long-QT syndrome (LQTS) genes in the general population. We therefore wanted to investigate the prevalence of mutations in an unselected population of sudden unexplained deaths in a nationwide setting.

U2 - 10.1111/j.1540-8167.2012.02371.x

DO - 10.1111/j.1540-8167.2012.02371.x

M3 - Journal article

C2 - 22882672

SN - 1045-3873

VL - 23

SP - 1092

EP - 1098

JO - Journal of Cardiovascular Electrophysiology

JF - Journal of Cardiovascular Electrophysiology

IS - 10

ER -

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater