Cargando…

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

BACKGROUND: Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and preval...

Descripción completa

Detalles Bibliográficos
Autores principales:	Selga, Elisabet, Campuzano, Oscar, Pinsach-Abuin, Mel·lina, Pérez-Serra, Alexandra, Mademont-Soler, Irene, Riuró, Helena, Picó, Ferran, Coll, Mònica, Iglesias, Anna, Pagans, Sara, Sarquella-Brugada, Georgia, Berne, Paola, Benito, Begoña, Brugada, Josep, Porres, José M., López Zea, Matilde, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Brugada, Ramon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501715/ https://www.ncbi.nlm.nih.gov/pubmed/26173111 http://dx.doi.org/10.1371/journal.pone.0132888

Ejemplares similares

Large Genomic Imbalances in Brugada Syndrome
por: Mademont-Soler, Irene, et al.
Publicado: (2016)

Role of Non-Coding Variants in Brugada Syndrome
por: Pérez-Agustín, Adrian, et al.
Publicado: (2020)

Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?
por: Campuzano, Oscar, et al.
Publicado: (2020)

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome
por: Tarradas, Anna, et al.
Publicado: (2013)

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
por: Pinsach-Abuin, Mel·lina, et al.
Publicado: (2021)

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology
por: Campuzano, Oscar, et al.
Publicado: (2014)

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death
por: Campuzano, Oscar, et al.
Publicado: (2015)

Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle
por: Carreras, David, et al.
Publicado: (2021)

Brugada Syndrome in Women: What Do We Know After 30 Years?
por: Martínez-Barrios, Estefanía, et al.
Publicado: (2022)

Experimental Models of Brugada syndrome
por: Sendfeld, Franziska, et al.
Publicado: (2019)

Genetics of channelopathies associated with sudden cardiac death
por: Campuzano, Oscar, et al.
Publicado: (2015)

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome
por: Allegue, Catarina, et al.
Publicado: (2015)

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
por: Fernández-Falgueras, Anna, et al.
Publicado: (2017)

Recent Advances in Short QT Syndrome
por: Campuzano, Oscar, et al.
Publicado: (2018)

Genetic and Molecular Mechanisms in Brugada Syndrome
por: Moras, Errol, et al.
Publicado: (2023)

Molecular autopsy in sudden cardiac death
por: Campuzano, Oscar, et al.
Publicado: (2023)

Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies
por: Grassi, Simone, et al.
Publicado: (2021)

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
por: Campuzano, Oscar, et al.
Publicado: (2019)

Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review
por: Oliva, Antonio, et al.
Publicado: (2022)

Brugada Syndrome: The Syndrome of Right Bundle Branch Block, ST segment Elevation in V(1) to V(3) and Sudden Death
por: Brugada, Josep, et al.
Publicado: (2001)

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy
por: Alcalde, Mireia, et al.
Publicado: (2014)

Use of intravenous antiarrhythmics to identify concealed Brugada syndrome
por: Brugada, Ramon
Publicado: (2000)

Pediatric Left Posteroseptal Accessory Pathway Ablation from Giant Coronary Sinus with Persistent Left Superior Cava
por: Cruzalegui, José, et al.
Publicado: (2022)

Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome
por: Grassi, Simone, et al.
Publicado: (2022)

Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease. Late follow-up in three unrelated children
por: Sarquella-Brugada, Georgia, et al.
Publicado: (2015)

Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation
por: Campuzano, Oscar, et al.
Publicado: (2020)

Anaesthetic management of patients with Brugada syndrome
por: Dendramis, Gregory, et al.
Publicado: (2018)

The challenges of performing ajmaline challenge in children with suspected Brugada syndrome
por: Conte, Giulio, et al.
Publicado: (2014)

The Known Into the Unknown: Brugada Syndrome and COVID-19
por: Sorgente, Antonio, et al.
Publicado: (2020)

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population
por: Martínez-Barrios, Estefanía, et al.
Publicado: (2022)

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
por: Campuzano, Oscar, et al.
Publicado: (2019)

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP
por: Coll, Monica, et al.
Publicado: (2017)

Left cardiac sympathetic denervation in children. A matter of facts
por: Sarquella Brugada, G
Publicado: (2023)

Management of cardiac arrhythmias in paediatric patients with TANGO2-deficiency disorder
por: Sarquella Brugada, G
Publicado: (2023)

Defibrillation test in paediatric patients: should be done?
por: Sarquella Brugada, G
Publicado: (2023)

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation
por: Sanchez, Olallo, et al.
Publicado: (2016)

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation
por: Sanchez, Olallo, et al.
Publicado: (2017)

Appropriate and inappropriate therapies in remotely monitored patients with Brugada syndrome: what to expect?
por: Dendramis, Gregory, et al.
Publicado: (2023)

Topiramate induced type 1 Brugada pattern
por: Marchese, Procolo, et al.
Publicado: (2021)

An SCN1B Variant Affects Both Cardiac-Type (Na(V)1.5) and Brain-Type (Na(V)1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders
por: Martinez-Moreno, Rebecca, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ea55uh0j1rs453roogur505uhb