Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome

Alex Hørby Christensen; Gang Pan; Rasmus L Marvig; Francisco German Rodriguez Gonzalez; Christoffer Rasmus Vissing; Elvira Silajdzija; Rasmus Frosted; Etsehiwot Girum Girma; Migle Gabrielaite; Henrik Kjærulf Jensen; Kasper Rossing; Finn Lund Henriksen; Niels Christian Foldager Sandgaard; Gustav Ahlberg; Jonas Ghouse; Pia Rengtved Lundegaard; Joachim Weischenfeldt; Claes Wadelius; Henning Bundgaard

doi:10.1093/eurheartj/ehaf213

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome

Alex Hørby Christensen^*
, Gang Pan
, Rasmus L Marvig
, Francisco German Rodriguez Gonzalez
, Christoffer Rasmus Vissing
, Elvira Silajdzija
, Rasmus Frosted
, Etsehiwot Girum Girma
, Migle Gabrielaite
, Henrik Kjærulf Jensen
, Kasper Rossing
, Finn Lund Henriksen
, Niels Christian Foldager Sandgaard
, Gustav Ahlberg
, Jonas Ghouse
, Pia Rengtved Lundegaard
, Joachim Weischenfeldt
, Claes Wadelius
, Henning Bundgaard

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

4 Citationer (Scopus)

Abstract

Originalsprog	Engelsk
Tidsskrift	European Heart Journal
Vol/bind	46
Nummer	35
Sider (fra-til)	3486-3497
Antal sider	12
ISSN	0195-668X
DOI	https://doi.org/10.1093/eurheartj/ehaf213
Status	Udgivet - 14 sep. 2025

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Christensen, A. H., Pan, G., Marvig, R. L., Rodriguez Gonzalez, F. G., Vissing, C. R., Silajdzija, E., Frosted, R., Girma, E. G., Gabrielaite, M., Jensen, H. K., Rossing, K., Henriksen, F. L., Sandgaard, N. C. F., Ahlberg, G., Ghouse, J., Lundegaard, P. R., Weischenfeldt, J., Wadelius, C., & Bundgaard, H. (2025). Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome. European Heart Journal, 46(35), 3486-3497. https://doi.org/10.1093/eurheartj/ehaf213

@article{4de876a8232f4a06a74798d78f3fbd61,

title = "Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome",

keywords = "Cardiomyopathy, ECG, Gene regulation, Ion channel, Transcription factor, Ventricular arrhythmia",

author = "Christensen, \{Alex H{\o}rby\} and Gang Pan and Marvig, \{Rasmus L\} and \{Rodriguez Gonzalez\}, \{Francisco German\} and Vissing, \{Christoffer Rasmus\} and Elvira Silajdzija and Rasmus Frosted and Girma, \{Etsehiwot Girum\} and Migle Gabrielaite and Jensen, \{Henrik Kj{\ae}rulf\} and Kasper Rossing and Henriksen, \{Finn Lund\} and Sandgaard, \{Niels Christian Foldager\} and Gustav Ahlberg and Jonas Ghouse and Lundegaard, \{Pia Rengtved\} and Joachim Weischenfeldt and Claes Wadelius and Henning Bundgaard",

note = "{\textcopyright} The Author(s) 2025. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For commercial re-use, please contact [email protected] for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact [email protected].",

year = "2025",

month = sep,

day = "14",

doi = "10.1093/eurheartj/ehaf213",

language = "English",

volume = "46",

pages = "3486--3497",

journal = "European Heart Journal",

issn = "0195-668X",

publisher = "Oxford University Press",

number = "35",

}

Christensen, AH, Pan, G, Marvig, RL, Rodriguez Gonzalez, FG, Vissing, CR, Silajdzija, E, Frosted, R, Girma, EG, Gabrielaite, M, Jensen, HK, Rossing, K, Henriksen, FL, Sandgaard, NCF, Ahlberg, G, Ghouse, J, Lundegaard, PR, Weischenfeldt, J, Wadelius, C & Bundgaard, H 2025, 'Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome', European Heart Journal, bind 46, nr. 35, s. 3486-3497. https://doi.org/10.1093/eurheartj/ehaf213

TY - JOUR

T1 - Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome

AU - Christensen, Alex Hørby

AU - Pan, Gang

AU - Marvig, Rasmus L

AU - Rodriguez Gonzalez, Francisco German

AU - Vissing, Christoffer Rasmus

AU - Silajdzija, Elvira

AU - Frosted, Rasmus

AU - Girma, Etsehiwot Girum

AU - Gabrielaite, Migle

AU - Jensen, Henrik Kjærulf

AU - Rossing, Kasper

AU - Henriksen, Finn Lund

AU - Sandgaard, Niels Christian Foldager

AU - Ahlberg, Gustav

AU - Ghouse, Jonas

AU - Lundegaard, Pia Rengtved

AU - Weischenfeldt, Joachim

AU - Wadelius, Claes

AU - Bundgaard, Henning

N1 - © The Author(s) 2025. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For commercial re-use, please contact [email protected] for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact [email protected].

PY - 2025/9/14

Y1 - 2025/9/14

KW - Cardiomyopathy

KW - ECG

KW - Gene regulation

KW - Ion channel

KW - Transcription factor

KW - Ventricular arrhythmia

UR - https://www.scopus.com/pages/publications/105016613565

U2 - 10.1093/eurheartj/ehaf213

DO - 10.1093/eurheartj/ehaf213

M3 - Journal article

C2 - 40208226

SN - 0195-668X

VL - 46

SP - 3486

EP - 3497

JO - European Heart Journal

JF - European Heart Journal

IS - 35

ER -

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome

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