Publications:

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Novel SCN5A frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead.

Experimental And Therapeutic Medicine

Zhou, Xiaoqian X; Ren, Lan L; Huang, Jian J; Zhang, Yinhui Y; Cai, Ying Y; Pu, Jielin J

Publication Date: 2023-06

Variant appearance in text: SCN5A: W822X

PubMed Link: 37206574

Variant Present in the following documents:

• etm-25-06-11986.pdf

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Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families.

Journal Of Clinical Medicine

Molitor, Nadine N; Medeiros-Domingo, Argelia A; Fokstuen, Siv S; Ruschitzka, Frank F; Duru, Firat F; Saguner, Ardan A

Publication Date: 2022-09-24

Variant appearance in text: SCN5A: 2465G>A

PubMed Link: 36233494

Variant Present in the following documents:

• Main text
• jcm-11-05625.pdf

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Cause of Death in Charred Bodies: Reflections and Operational Insights Based on a Large Cases Study.

Diagnostics (Basel, Switzerland)

Maiese, Aniello A; Ciallella, Costantino C; dell'Aquila, Massimiliano M; De Matteis, Alessandra A; Toni, Chiara C; Scatena, Andrea A; La Russa, Raffaele R; Mezzetti, Eleonora E; Di Paolo, Marco M; Turillazzi, Emanuela E; Frati, Paola P; Fineschi, Vittorio V

Publication Date: 2022-08-16

Variant appearance in text: SCN5A: W822X

PubMed Link: 36010336

Variant Present in the following documents:

• diagnostics-12-01986.pdf

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: W822X

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: W822X

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

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Pharmacogenetics and Forensic Toxicology: A New Step towards a Multidisciplinary Approach.

Toxics

Di Nunno, Nunzio N; Esposito, Massimiliano M; Argo, Antonina A; Salerno, Monica M; Sessa, Francesco F

Publication Date: 2021-11-04

Variant appearance in text: SCN5A: W822X

PubMed Link: 34822683

Variant Present in the following documents:

• toxics-09-00292.pdf

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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: SCN5A: W822X

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

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Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine

Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z

Publication Date: 2021

Variant appearance in text: SCN5A: W822X

PubMed Link: 34422936

Variant Present in the following documents:

• Main text
• fcvm-08-714844.pdf

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Sudden Death in Adults: A Practical Flow Chart for Pathologist Guidance.

Healthcare (Basel, Switzerland)

Sessa, Francesco F; Esposito, Massimiliano M; Messina, Giovanni G; Di Mizio, Giulio G; Di Nunno, Nunzio N; Salerno, Monica M

Publication Date: 2021-07-09

Variant appearance in text: SCN5A: W822X

PubMed Link: 34356248

Variant Present in the following documents:

• healthcare-09-00870.pdf

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Genetic Factors Underlying Sudden Infant Death Syndrome.

The Application Of Clinical Genetics

Keywan, Christine C; Poduri, Annapurna H AH; Goldstein, Richard D RD; Holm, Ingrid A IA

Publication Date: 2021

Variant appearance in text: SCN5A: W822X

PubMed Link: 33623412

Variant Present in the following documents:

• Main text
• tacg-14-61.pdf

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Anaphylactic Death: A New Forensic Workflow for Diagnosis.

Healthcare (Basel, Switzerland)

Esposito, Massimiliano M; Montana, Angelo A; Liberto, Aldo A; Filetti, Veronica V; Nunno, Nunzio Di ND; Amico, Francesco F; Salerno, Monica M; Loreto, Carla C; Sessa, Francesco F

Publication Date: 2021-01-22

Variant appearance in text: SCN5A: W822X

PubMed Link: 33499408

Variant Present in the following documents:

• healthcare-09-00117.pdf

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Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.

Frontiers In Physiology

Dong, Caijuan C; Wang, Ya Y; Ma, Aiqun A; Wang, Tingzhong T

Publication Date: 2020

Variant appearance in text: SCN5A: W822X

PubMed Link: 33391024

Variant Present in the following documents:

• Main text
• fphys-11-609733.pdf

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Deep Mutational Scan of an SCN5A Voltage Sensor.

Circulation. Genomic And Precision Medicine

Glazer, Andrew M AM; Kroncke, Brett M BM; Matreyek, Kenneth A KA; Yang, Tao T; Wada, Yuko Y; Shields, Tiffany T; Salem, Joe-Elie JE; Fowler, Douglas M DM; Roden, Dan M DM

Publication Date: 2020-02

Variant appearance in text: SCN5A: W822X

PubMed Link: 31928070

Variant Present in the following documents:

• Main text

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Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Robyns, Tomas T; Nuyens, Dieter D; Vandenberk, Bert B; Kuiperi, Cuno C; Corveleyn, Anniek A; Breckpot, Jeroen J; Garweg, Christophe C; Ector, Joris J; Willems, Rik R

Publication Date: 2018-09

Variant appearance in text: SCN5A: 2465G>A; Trp822*

PubMed Link: 29709101

Variant Present in the following documents:

• Main text

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A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.

International Journal Of Molecular Medicine

Guo, Qi Q; Ren, Lan L; Chen, Xuhua X; Hou, Cuihong C; Chu, Jianmin J; Pu, Jielin J; Zhang, Shu S

Publication Date: 2016-03

Variant appearance in text: SCN5A: W822X

PubMed Link: 26820605

Variant Present in the following documents:

• ijmm-37-03-0727.pdf

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: SCN5A: 2465G>A

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Nature Communications

Bolli, Niccolo N; Avet-Loiseau, Hervé H; Wedge, David C DC; Van Loo, Peter P; Alexandrov, Ludmil B LB; Martincorena, Inigo I; Dawson, Kevin J KJ; Iorio, Francesco F; Nik-Zainal, Serena S; Bignell, Graham R GR; Hinton, Jonathan W JW; Li, Yilong Y; Tubio, Jose M C JM; McLaren, Stuart S; O' Meara, Sarah S; Butler, Adam P AP; Teague, Jon W JW; Mudie, Laura L; Anderson, Elizabeth E; Rashid, Naim N; Tai, Yu-Tzu YT; Shammas, Masood A MA; Sperling, Adam S AS; Fulciniti, Mariateresa M; Richardson, Paul G PG; Parmigiani, Giovanni G; Magrangeas, Florence F; Minvielle, Stephane S; Moreau, Philippe P; Attal, Michel M; Facon, Thierry T; Futreal, P Andrew PA; Anderson, Kenneth C KC; Campbell, Peter J PJ; Munshi, Nikhil C NC

Publication Date: 2014

Variant appearance in text: SCN5A: 2465G>A

PubMed Link: 24429703

Variant Present in the following documents:

• ncomms3997-s2.xlsx, sheet 1

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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology

Wilders, Ronald R

Publication Date: 2012

Variant appearance in text: SCN5A: W822X

PubMed Link: 23304551

Variant Present in the following documents:

• Main text
• ISRN.CARDIOLOGY2012-846171.pdf

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Forever young: induced pluripotent stem cells as models of inherited arrhythmias.

Circulation

Park, David S DS; Fishman, Glenn I GI

Publication Date: 2012-06-26

Variant appearance in text: SCN5A: W822X

PubMed Link: 22647977

Variant Present in the following documents:

• Main text

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