Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

Bibliographic Details
Main Authors:	Anders Krogh Broendberg, MD, Lisbeth Noerum Pedersen, MSc, PhD, Jens Cosedis Nielsen, MD, DMSc, PhD, Henrik Kjaerulf Jensen, MD, DMSc, PhD
Format:	Article
Language:	English
Published:	Elsevier 2016-05-01
Series:	HeartRhythm Case Reports
Subjects:	Brugada syndrome MLPA SCN5A Ventricular fibrillation
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214027116300161

Similar Items

Genetic basis of Brugada syndrome
by: Minoru Horie, MD, PhD, et al.
Published: (2013-04-01)

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature
by: T. Robyns, MD., et al.
Published: (2014-05-01)

IRX3 variant as a modifier of Brugada syndrome with frequent ventricular fibrillation
by: Yoshitaka Kimura, MD, et al.
Published: (2016-11-01)

Symmetric Projection Attractor Reconstruction analysis of murine electrocardiograms: Retrospective prediction of Scn5a+/- genetic mutation attributable to Brugada syndrome
by: Esther Bonet-Luz, MMath, PhD, et al.
Published: (2020-12-01)

Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification
by: Simrit K. Warring, MS, et al.
Published: (2017-10-01)

Ankyrin-2 variants associated with idiopathic ventricular fibrillation storm in patients with intermittent early repolarization pattern
by: Anders Krogh Broendberg, MD, et al.
Published: (2015-09-01)

Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
by: Md. Zahidus Sayeed, et al.
Published: (2014-01-01)

Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan
by: Jyh-Ming Jimmy Juang, et al.
Published: (2015-07-01)

Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?
by: Yihan Yang, et al.
Published: (2019-02-01)

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
by: Hiroya Matsumura, et al.
Published: (2017-12-01)

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant
by: Nicolas Doisne, et al.
Published: (2021-05-01)

Quinidine: an “Endangered Species” Drug Appropriate for Management of Electrical Storm in Brugada Syndrome
by: Stelios Paraskevaidis, MD, PhD, et al.
Published: (2013-09-01)

Genetics of Brugada syndrome
by: Jyh-Ming Jimmy Juang, M.D., MS2, Ph.D., et al.
Published: (2016-10-01)

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report
by: Aleksandra Nijak, et al.
Published: (2020-07-01)

“Pill-in-the-Pocket” Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism
by: Linling Li, et al.
Published: (2019-03-01)

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
by: Lumin Wang, et al.
Published: (2015-07-01)

SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta‐analysis
by: Sunu Budhi Raharjo, et al.
Published: (2018-10-01)

Investigating sudden cardiac death – A new paradigm
by: Henrik Kjærulf Jensen, MD, DMSc, PhD, et al.
Published: (2021-02-01)

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
by: Emanuele Micaglio, et al.
Published: (2019-06-01)

Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome
by: Tadashi Nakajima, et al.
Published: (2021-05-01)

Clinical features of Brugada syndrome
by: Wataru Shimizu, MD, PhD
Published: (2013-04-01)

A1427S missense mutation in scn5a causes type 1 brugada pattern, recurrent ventricular tachyarrhythmias and right ventricular structural abnormalities
by: Ka Hou Christien Li, et al.
Published: (2017-01-01)

Role of programmed electrical stimulation in Brugada syndrome
by: Masahiko Takagi, MD, PhD
Published: (2013-04-01)

The use of noninvasive ECG imaging for examination of a patient with Brugada syndrome
by: Maria Chaykovskaya, MD, et al.
Published: (2015-07-01)

Clinical outcome and risk stratification in Brugada syndrome
by: Tadashi Wada, MD, et al.
Published: (2013-04-01)

Novel <i>SCN5A</i> p.V1429M Variant Segregation in a Family with Brugada Syndrome
by: Michelle M. Monasky, et al.
Published: (2020-08-01)

Functional Characterization of Two Novel Mutations in <i>SCN5A</i> Associated with Brugada Syndrome Identified in Italian Patients
by: Cristina Balla, et al.
Published: (2021-06-01)

Local activation delay exacerbates local J-ST elevation in the epicardium: Electrophysiological substrate in Brugada syndrome
by: Naoya Kataoka, MD, PhD, et al.
Published: (2017-12-01)

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong
by: Gary Tse, et al.
Published: (2020-09-01)

Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation
by: Hisaaki Aoki, MD, PHD, et al.
Published: (2017-02-01)

An Open Invitation to Join the International Brugada Electrocardiographic Indices Registry
by: Gary Tse, MD, PhD, FESC, FACC, FHRS, FRCP, et al.
Published: (2020-01-01)

Importance of exercise testing shortly after subcutaneous implantable cardioverter-defibrillator implantation in patients with Brugada syndrome – The first case of associated inappropriate shock in Japan
by: Kohei Ishibashi, MD, PhD, et al.
Published: (2017-04-01)

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene
by: Michelle M. Monasky, et al.
Published: (2019-05-01)

Estudio del gen del canal de sodio (SCN5A) en una población de pacientes con diagnóstico de síndrome de Brugada
by: García-Molina Sáez, Esperanza
Published: (2011)

Autonomic and cardio-respiratory responses to exercise in Brugada Syndrome patients
by: Raoyrin Chanavirut, MSc, et al.
Published: (2016-10-01)

Alternative approach for management of an electrical storm in Brugada syndrome:Importance of primary ablation within a narrow time window
by: Ahmed Karim Talib, MD, PhD, et al.
Published: (2016-06-01)

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A
by: Hiroshi Kawakami, MD, et al.
Published: (2013-10-01)

Disease Phenotypes and Mechanisms of iPSC-Derived Cardiomyocytes From Brugada Syndrome Patients With a Loss-of-Function SCN5A Mutation
by: Wener Li, et al.
Published: (2020-10-01)

Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome
by: Shaobo Shi, MD, PhD, et al.
Published: (2017-01-01)

Ischemic Brugada phenocopy during ablation of ventricular tachycardia
by: Byron H. Gottschalk, BMSc, et al.
Published: (2016-04-01)