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 › Tidsskriftartikel › Forskning › peer review

4 Citationer (Scopus)

Abstract

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

Bibliografisk note

Publisher Copyright:
© The Author(s) 2025 Published by Oxford University Press on behalf of the European Society of Cardiology All rights reserved.

Adgang til dokumentet

10.1093/eurheartj/ehaf213

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Tjek tilgængelighed hos det Kgl. Bibliotek

Citationsformater

Christensen, A. H., Pan, G., Marvig, R. L., Gonzalez, F. G. R., 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

Christensen, AH, Pan, G, Marvig, RL, Gonzalez, FGR, 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

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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 Gonzalez, {Francisco German Rodriguez} 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",

year = "2025",

doi = "10.1093/eurheartj/ehaf213",

language = "English",

volume = "46",

pages = "3486--3497",

journal = "European Heart Journal",

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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 - Gonzalez, Francisco German Rodriguez

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

PY - 2025

Y1 - 2025

KW - Cardiomyopathy

KW - ECG

KW - Gene regulation

KW - Ion channel

KW - Transcription factor

KW - Ventricular arrhythmia

U2 - 10.1093/eurheartj/ehaf213

DO - 10.1093/eurheartj/ehaf213

M3 - Journal article

C2 - 40208226

AN - SCOPUS:105016613565

SN - 0195-668X

VL - 46

SP - 3486

EP - 3497

JO - European Heart Journal

JF - European Heart Journal

IS - 35

ER -