Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: N588K; rs104894021

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNH2: N588K

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.pdf

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Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Medrxiv : The Preprint Server For Health Sciences

Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS

Publication Date: 2023-04-03

Variant appearance in text: KCNH2: Asn588Lys

PubMed Link: 37066275

Variant Present in the following documents:

• media-2.xlsx, sheet 2

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1764C>A; Asn588Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias.

Journal Of Arrhythmia

Ono, Katsushige K; Iwasaki, Yu-Ki YK; Akao, Masaharu M; Ikeda, Takanori T; Ishii, Kuniaki K; Inden, Yasuya Y; Kusano, Kengo K; Kobayashi, Yoshinori Y; Koretsune, Yukihiro Y; Sasano, Tetsuo T; Sumitomo, Naokata N; Takahashi, Naohiko N; Niwano, Shinichi S; Hagiwara, Nobuhisa N; Hisatome, Ichiro I; Furukawa, Tetsushi T; Honjo, Haruo H; Maruyama, Toru T; Murakawa, Yuji Y; Yasaka, Masahiro M; Watanabe, Eiichi E; Aiba, Takeshi T; Amino, Mari M; Itoh, Hideki H; Ogawa, Hisashi H; Okumura, Yasuo Y; Aoki-Kamiya, Chizuko C; Kishihara, Jun J; Kodani, Eitaro E; Komatsu, Takashi T; Sakamoto, Yusuke Y; Satomi, Kazuhiro K; Shiga, Tsuyoshi T; Shinohara, Tetsuji T; Suzuki, Atsushi A; Suzuki, Shinya S; Sekiguchi, Yukio Y; Nagase, Satoshi S; Hayami, Noriyuki N; Harada, Masahide M; Fujino, Tadashi T; Makiyama, Takeru T; Maruyama, Mitsunori M; Miake, Junichiro J; Muraji, Shota S; Murata, Hiroshige H; Morita, Norishige N; Yokoshiki, Hisashi H; Yoshioka, Koichiro K; Yodogawa, Kenji K; Inoue, Hiroshi H; Okumura, Ken K; Kimura, Takeshi T; Tsutsui, Hiroyuki H; Shimizu, Wataru W; , ; ,

Publication Date: 2022-12

Variant appearance in text: KCNH2: N588K

PubMed Link: 36524037

Variant Present in the following documents:

• Main text

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hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.

The Journal Of Biological Chemistry

Ukachukwu, Chiamaka U CU; Jimenez-Vazquez, Eric N EN; Jain, Abhilasha A; Jones, David K DK

Publication Date: 2022-12-07

Variant appearance in text: KCNH2: N588K

PubMed Link: 36496073

Variant Present in the following documents:

• Main text
• main.pdf

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Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol.

Npj Systems Biology And Applications

Zhang, Shugang S; Lu, Weigang W; Yang, Fei F; Li, Zhen Z; Wang, Shuang S; Jiang, Mingjian M; Wang, Xiaofeng X; Wei, Zhiqiang Z

Publication Date: 2022-11-04

Variant appearance in text: KCNH2: N588K

PubMed Link: 36333337

Variant Present in the following documents:

• Main text
• 41540_2022_254_MOESM1_ESM.pdf
• 41540_2022_Article_254.pdf

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Arrhythmogenic influence of mutations in a myocyte-based computational model of the pulmonary vein sleeve.

Scientific Reports

Jæger, Karoline Horgmo KH; Edwards, Andrew G AG; Giles, Wayne R WR; Tveito, Aslak A

Publication Date: 2022-04-29

Variant appearance in text: KCNH2: N588K

PubMed Link: 35487957

Variant Present in the following documents:

• Main text
• 41598_2022_Article_11110.pdf

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Electromechanical reciprocity and arrhythmogenesis in long-QT syndrome and beyond.

European Heart Journal

Odening, Katja E KE; van der Linde, Henk J HJ; Ackerman, Michael J MJ; Volders, Paul G A PGA; Ter Bekke, Rachel M A RMA

Publication Date: 2022-08-21

Variant appearance in text: KCNH2: N588K

PubMed Link: 35445703

Variant Present in the following documents:

• Main text
• ehac135.pdf

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From engineered heart tissue to cardiac organoid.

Theranostics

Cho, Jaeyeaon J; Lee, Hyein H; Rah, Woongchan W; Chang, Hyuk Jae HJ; Yoon, Young-Sup YS

Publication Date: 2022

Variant appearance in text: KCNH2: N588K

PubMed Link: 35401829

Variant Present in the following documents:

• Main text
• thnov12p2758.pdf

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Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.

Journal Of The American Heart Association

Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M

Publication Date: 2022-03-15

Variant appearance in text: HERG: n588k

PubMed Link: 35243873

Variant Present in the following documents:

• JAH3-11-e023446.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: KCNH2: N588K

PubMed Link: 35052786

Variant Present in the following documents:

• Main text
• biomedicines-10-00106.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: KCNH2: N588K

PubMed Link: 35052786

Variant Present in the following documents:

• Main text
• biomedicines-10-00106.pdf

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Inhibition of the hERG potassium channel by phenanthrene: a polycyclic aromatic hydrocarbon pollutant.

Cellular And Molecular Life Sciences : Cmls

Al-Moubarak, Ehab E; Shiels, Holly A HA; Zhang, Yihong Y; Du, Chunyun C; Hanington, Oliver O; Harmer, Stephen C SC; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2021-12

Variant appearance in text: HERG: N588K

PubMed Link: 34727194

Variant Present in the following documents:

• Main text

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Inhibition of the hERG potassium channel by phenanthrene: a polycyclic aromatic hydrocarbon pollutant.

Cellular And Molecular Life Sciences : Cmls

Al-Moubarak, Ehab E; Shiels, Holly A HA; Zhang, Yihong Y; Du, Chunyun C; Hanington, Oliver O; Harmer, Stephen C SC; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2021-12

Variant appearance in text: HERG: N588K

PubMed Link: 34727194

Variant Present in the following documents:

• Main text

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: Kv11.1: N588K

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: KCNH2: Asn588Lys

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf
• ehab687_supplementary_data.pdf

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H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences

Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG

Publication Date: 2021-08-26

Variant appearance in text: KCNH2: N588K

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.pdf

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A computational method for identifying an optimal combination of existing drugs to repair the action potentials of SQT1 ventricular myocytes.

Plos Computational Biology

Jæger, Karoline Horgmo KH; Edwards, Andrew G AG; Giles, Wayne R WR; Tveito, Aslak A

Publication Date: 2021-08

Variant appearance in text: HERG: N588K

PubMed Link: 34383746

Variant Present in the following documents:

• pcbi.1009233.pdf

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Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology

Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J

Publication Date: 2021

Variant appearance in text: KCNH2: N588K

PubMed Link: 34135774

Variant Present in the following documents:

• Main text
• fphys-12-681943.pdf

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Effects of Antiarrhythmic Drugs on hERG Gating in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1.

Frontiers In Pharmacology

Huang, Mengying M; Liao, Zhenxing Z; Li, Xin X; Yang, Zhen Z; Fan, Xuehui X; Li, Yingrui Y; Zhao, Zhihan Z; Lang, Siegfried S; Cyganek, Lukas L; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M; El-Battrawy, Ibrahim I

Publication Date: 2021

Variant appearance in text: KCNH2: N588k

PubMed Link: 34025432

Variant Present in the following documents:

• Main text

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Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells

Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM

Publication Date: 2021-04-26

Variant appearance in text: KCNH2: N588K

PubMed Link: 33959219

Variant Present in the following documents:

• Main text

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Computational prediction of drug response in short QT syndrome type 1 based on measurements of compound effect in stem cell-derived cardiomyocytes.

Plos Computational Biology

Jæger, Karoline Horgmo KH; Wall, Samuel S; Tveito, Aslak A

Publication Date: 2021-02

Variant appearance in text: KCNH2: N588K

PubMed Link: 33591962

Variant Present in the following documents:

• Main text
• pcbi.1008089.pdf

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Prediction of Cardiac Mechanical Performance From Electrical Features During Ventricular Tachyarrhythmia Simulation Using Machine Learning Algorithms.

Frontiers In Physiology

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNH2: N588K

PubMed Link: 33329041

Variant Present in the following documents:

• Data_Sheet_1.pdf

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The Short QTc Is a Marker for the Development of Atrial Flutter and Atrial Fibrillation.

Cardiology Research And Practice

Rabkin, Simon W SW; Tang, Jacky K K JKK

Publication Date: 2020

Variant appearance in text: KCNH2: N588K

PubMed Link: 33224525

Variant Present in the following documents:

• Main text

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Ionic Mechanisms of Disopyramide Prolonging Action Potential Duration in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1.

Frontiers In Pharmacology

Lan, Huan H; Xu, Qiang Q; El-Battrawy, Ibrahim I; Zhong, Rujia R; Li, Xin X; Lang, Siegfried S; Cyganek, Lukas L; Borggrefe, Martin M; Zhou, Xiaobo X; Akin, Ibrahim I

Publication Date: 2020

Variant appearance in text: HERG: N588K

PubMed Link: 33154722

Variant Present in the following documents:

• Main text

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Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Physiological Reports

Zhang, Yihong Y; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2020-10

Variant appearance in text: HERG: N588K

PubMed Link: 33091232

Variant Present in the following documents:

• PHY2-8-e14568.pdf

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Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences

Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O

Publication Date: 2020-10-03

Variant appearance in text: KCNH2: N588K

PubMed Link: 33023024

Variant Present in the following documents:

• Main text
• ijms-21-07320.pdf

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Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Journal Of Korean Medical Science

Heikhmakhtiar, Aulia Khamas AK; Abrha, Abebe Tekle AT; Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020-07-27

Variant appearance in text: KCNH2: N588K

PubMed Link: 32715669

Variant Present in the following documents:

• Main text
• jkms-35-e238.pdf

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The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies.

Journal Of Clinical Medicine

Popa-Fotea, Nicoleta-Monica NM; Cojocaru, Cosmin C; Scafa-Udriste, Alexandru A; Micheu, Miruna Mihaela MM; Dorobantu, Maria M

Publication Date: 2020-07-04

Variant appearance in text: KCNH2: N588K

PubMed Link: 32635562

Variant Present in the following documents:

• Main text

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Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.

Nature Communications

Maurissen, Thomas L TL; Woltjen, Knut K

Publication Date: 2020-06-08

Variant appearance in text: KCNH2: N588K

PubMed Link: 32513994

Variant Present in the following documents:

• Main text
• 41467_2020_16643_MOESM4_ESM.xlsx, sheet 26
• 41467_2020_16643_MOESM1_ESM.pdf
• 41467_2020_Article_16643.pdf

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: KCNH2: N588K

PubMed Link: 32180835

Variant Present in the following documents:

• Main text

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An Update on the Structure of hERG.

Frontiers In Pharmacology

Butler, Andrew A; Helliwell, Matthew V MV; Zhang, Yihong Y; Hancox, Jules C JC; Dempsey, Christopher E CE

Publication Date: 2019

Variant appearance in text: KCNH2: N588K

PubMed Link: 32038248

Variant Present in the following documents:

• Main text

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Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis.

Frontiers In Genetics

Raschwitz, Laura S LS; El-Battrawy, Ibrahim I; Schlentrich, Kim K; Besler, Johanna J; Veith, Michael M; Roterberg, Gretje G; Liebe, Volker V; Schimpf, Rainer R; Lang, Siegfried S; Wolpert, Christian C; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M

Publication Date: 2019

Variant appearance in text: KCNH2: N588K

PubMed Link: 32010184

Variant Present in the following documents:

• fgene-10-01312.pdf

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Identification of a proton sensor that regulates conductance and open time of single hERG channels.

Scientific Reports

Wilson, Stacey L SL; Dempsey, Christopher E CE; Hancox, Jules C JC; Marrion, Neil V NV

Publication Date: 2019-12-27

Variant appearance in text: KCNH2: N588K

PubMed Link: 31882846

Variant Present in the following documents:

• Main text

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT2: N588K

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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Understanding AF Mechanisms Through Computational Modelling and Simulations.

Arrhythmia & Electrophysiology Review

Aronis, Konstantinos N KN; Ali, Rheeda L RL; Liang, Jialiu A JA; Zhou, Shijie S; Trayanova, Natalia A NA

Publication Date: 2019-07

Variant appearance in text: KCNH2: N588K

PubMed Link: 31463059

Variant Present in the following documents:

• aer-08-210.pdf

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Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome.

Frontiers In Pharmacology

El-Battrawy, Ibrahim I; Besler, Johanna J; Li, Xin X; Lan, Huan H; Zhao, Zhihan Z; Liebe, Volker V; Schimpf, Rainer R; Lang, Siegfried S; Wolpert, Christian C; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M

Publication Date: 2019

Variant appearance in text: KCNH2: N588K

PubMed Link: 31427960

Variant Present in the following documents:

• Main text

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Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.

Journal Of Molecular And Cellular Cardiology

Cheng, Hongwei H; Du, Chunyun C; Zhang, Yihong Y; James, Andrew F AF; Dempsey, Christopher E CE; Abdala, Ana P AP; Hancox, Jules C JC

Publication Date: 2019-10

Variant appearance in text: KCNH2: N588K

PubMed Link: 31362019

Variant Present in the following documents:

• Main text

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Molecular Insights into the Short QT Syndrome.

The Journal Of Innovations In Cardiac Rhythm Management

Perike, Srikanth S; McCAULEY, Mark D MD

Publication Date: 2018-03

Variant appearance in text: KCNH2: N588K

PubMed Link: 31355049

Variant Present in the following documents:

• Main text
• icrm-09-3065.pdf

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Asn588Lys; rs104894021

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

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Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon

Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2019-04

Variant appearance in text: LQT2: N588K

PubMed Link: 31049424

Variant Present in the following documents:

• Main text
• main.pdf

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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: KCNH2: N588K

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

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In silico Assessment of Pharmacotherapy for Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome.

Frontiers In Physiology

Whittaker, Dominic G DG; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018

Variant appearance in text: HERG: N588K

PubMed Link: 30687112

Variant Present in the following documents:

• Data_Sheet_1.pdf
• fphys-09-01888.pdf

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Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome.

Journal Of The American Heart Association

El-Battrawy, Ibrahim I; Besler, Johanna J; Liebe, Volker V; Schimpf, Rainer R; Tülümen, Erol E; Rudic, Boris B; Lang, Siegfried S; Wolpert, Christian C; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M

Publication Date: 2018-12-04

Variant appearance in text: KCNH2: N588K

PubMed Link: 30571592

Variant Present in the following documents:

• Main text

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: 1764C>A; N588K

PubMed Link: 30420954

Variant Present in the following documents:

• Main text

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Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Physiological Reports

Butler, Andrew A; Zhang, Yihong Y; Stuart, Alan G AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2018-09

Variant appearance in text: HERG: N588K

PubMed Link: 30175559

Variant Present in the following documents:

• Main text
• PHY2-6-e13845.pdf

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