Cargando…

A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

BACKGROUND: Class IC antiarrhythmic agents may induce acquired forms of Brugada Syndrome. We have identified a novel mutation in SCN5A, the gene that encodes the α-subunit of the human cardiac sodium channel (hNa(v)1.5), in a patient who exhibited Brugada- type ECG changes during pharmacotherapy of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Turker, Isik, Makiyama, Takeru, Vatta, Matteo, Itoh, Hideki, Ueyama, Takeshi, Shimizu, Akihiko, Ai, Tomohiko, Horie, Minoru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999187/ https://www.ncbi.nlm.nih.gov/pubmed/27560382 http://dx.doi.org/10.1371/journal.pone.0161872

Ejemplares similares

Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation()
por: Aoki, Hisaaki, et al.
Publicado: (2017)

Genetic variants of alcohol‐metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol
por: Wu, Qi, et al.
Publicado: (2019)

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
por: Wijeyeratne, Yanushi D., et al.
Publicado: (2020)

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome
por: Aizawa, Yoshiyasu, et al.
Publicado: (2018)

Embryonic type Na(+) channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome
por: Okata, Shinichiro, et al.
Publicado: (2016)

Genetics of Brugada syndrome
por: Juang, Jyh-Ming Jimmy, et al.
Publicado: (2016)

SCN5A Mutations in Brugada Syndrome Are Associated with Increased Cardiac Dimensions and Reduced Contractility
por: van Hoorn, Frans, et al.
Publicado: (2012)

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients
por: Balla, Cristina, et al.
Publicado: (2021)

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Brugada-type ECG associated with pectus excavatum
por: Marchetti, M, et al.
Publicado: (2015)

Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification
por: Warring, Simrit K., et al.
Publicado: (2017)

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights
por: Frosio, Anthony, et al.
Publicado: (2023)

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
por: Ricci, Maria Teresa, et al.
Publicado: (2014)

Increased Ca(V)1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
por: Ozawa, Junichi, et al.
Publicado: (2022)

Pathophysiology of Hyperkalemia Presenting as Brugada Pattern on Electrocardiogram (ECG)
por: Doty, Benjamin, et al.
Publicado: (2020)

Deep learning unmasks the ECG signature of Brugada syndrome
por: Melo, Luke, et al.
Publicado: (2023)

“Pill-in-the-Pocket” Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism
por: Li, Linling, et al.
Publicado: (2019)

Low‐Voltage Type 1 ECG Is Associated With Fatal Ventricular Tachyarrhythmia in Brugada Syndrome
por: Nagase, Satoshi, et al.
Publicado: (2018)

Flecainide challenge test: Predictors of unmasking of type 1 Brugada ECG pattern among those with non-type 1 Brugada ECG pattern
por: Prasad, Srinivasa, et al.
Publicado: (2016)

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report
por: Nijak, Aleksandra, et al.
Publicado: (2020)

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant
por: Doisne, Nicolas, et al.
Publicado: (2021)

A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease
por: Holst, Anders G., et al.
Publicado: (2009)

Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
por: Sayeed, Md. Zahidus, et al.
Publicado: (2014)

Electrophysiological Characteristics of a SCN5A Voltage Sensors Mutation R1629Q Associated With Brugada Syndrome
por: Zeng, Zhipeng, et al.
Publicado: (2013)

SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta‐analysis
por: Raharjo, Sunu Budhi, et al.
Publicado: (2018)

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Does function trump bioinformatics in Brugada syndrome-associated SCN5A mutation calling? Patients, computers, and patches
por: Wilde, Arthur A M, et al.
Publicado: (2021)

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A
por: Zhu, Yao-Bin, et al.
Publicado: (2022)

Hyperkalemia Induced Brugada Phenocopy: A Rare ECG Manifestation
por: Ameen, Muhammad, et al.
Publicado: (2017)

Ajmaline‐Induced Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging
por: Pannone, Luigi, et al.
Publicado: (2022)

Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?
por: Yang, Yihan, et al.
Publicado: (2019)

A hERG mutation E1039X produced a synergistic lesion on I(Ks) together with KCNQ1-R174C mutation in a LQTS family with three compound mutations
por: Wu, Jie, et al.
Publicado: (2018)

SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome
por: Makarawate, Pattarapong, et al.
Publicado: (2017)

Long‐Term Prognosis of Brugada‐Type ECG and ECG With Atypical ST‐Segment Elevation in the Right Precordial Leads Over 20 Years: Results From the Circulatory Risk in Communities Study (CIRCS)
por: Tsuneoka, Hidekazu, et al.
Publicado: (2016)

Drug-induced Brugada-type Electrocardiogram: A Cause of Sudden Death in Patients with Schizophrenia?
por: Itoh, Hideki
Publicado: (2017)

Standard ECG in Brugada Syndrome as a Marker of Prognosis: From Risk Stratification to Pathophysiological Insights
por: Vitali, Francesco, et al.
Publicado: (2021)

Unmasking Idiopathic Brugada ECG Pattern: Inducible Type 1 Brugada Pattern in a Young Patient and Clinical Implications
por: EL Ouartassi, Hajar, et al.
Publicado: (2023)

Brugada ECG pattern precipitated by acute pneumonia: a case report
por: Abusin, Salaheldin
Publicado: (2009)

Transient loss of consciousness in a patient with a Brugada like ECG
por: Sandler, Belinda, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_osvd98k2mi70tb197582lc0dui