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: 1285G>C; rs199473508

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: A429P

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.

Journal Of The American Heart Association

Frontera, Antonio A; Vlachos, Konstantinos K; Kitamura, Takeshi T; Mahida, Saagar S; Pillois, Xavier X; Fahy, Gerard G; Marquie, Christelle C; Cappato, Riccardo R; Stuart, Graham G; Defaye, Pascal P; Kaski, Juan Pablo JP; Ector, Joris J; Maltret, Alice A; Scanu, Patrice P; Pasquie, Jean-Luc JL; Deisenhofer, Isabelle I; Blankoff, Ivan I; Scherr, Daniel D; Manninger, Martin M; Aizawa, Yoshifusa Y; Koutbi, Linda L; Denis, Arnaud A; Pambrun, Thomas T; Ritter, Philippe P; Sacher, Frederic F; Hocini, Meleze M; Maury, Philippe P; Jaïs, Pierre P; Bordachar, Pierre P; Haïssaguerre, Michel M; Derval, Nicolas N

Publication Date: 2019-05-07

Variant appearance in text: KCNH2: A429P

PubMed Link: 31057083

Variant Present in the following documents:

• Main text
• JAH3-8-e011172.pdf

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: LQT2: A429P

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience

Villa, Chiara C; Combi, Romina R

Publication Date: 2016

Variant appearance in text: LQT2: Ala429Pro

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT2: A429P

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.

The Canadian Journal Of Cardiology

Keller, Dagmar I DI; Grenier, Julie J; Christé, Georges G; Dubouloz, Frédérique F; Osswald, Stefan S; Brink, Marijke M; Ficker, Eckhard E; Chahine, Mohamed M

Publication Date: 2009-08

Variant appearance in text: KCNH2: A429P

PubMed Link: 19668779

Variant Present in the following documents:

• Main text

View BVdb publication page

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