Results 101 to 110 of about 25,737 (250)

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology, Volume 98, Issue 4, Page 864-870, October 2025.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge, Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir, Zia Ullah, Javeria Reza Alvi, Tipu Sultan, Stephanie Efthymiou, Frank Bosmans, Henry Houlden   +11 more
wiley   +1 more source

Brugada syndrome is associated with scar and endocardial involvement: Insights from high-density mapping with the Rhythmia™ mapping system

Revista Portuguesa de Cardiologia, 2017
The authors report the first catheter ablation of Brugada syndrome in the literature using the Rhythmia™ mapping system. Learning points include: (1) low voltage areas can be documented while mapping in some individuals, suggesting that Brugada syndrome ...
Rui Providência, Pedro Carmo, Francisco Moscoso Costa, Diogo Cavaco, Francisco Morgado, Mauricio Scanavacca, Pedro Adragão   +6 more
doaj   +1 more source

Prevalencia de patrones electrocardiográficos asociados a muerte súbita en la población española de 40 años o más. Resultados del estudio OFRECE [PDF]

, 2017
[Abstract] Introduction and objectives. Some electrocardiographic patterns are associated with an increased risk of sudden cardiac death due to ventricular arrhythmias. There is no information on the prevalence of these patterns in the general population
Alonso Martín, Joaquín Jesús, Awamleh García, Paula, Cristóbal Varela, Carmen, Curcio Ruigómez, Alejandro, Graupner Abad, Catherine, Gómez Doblas, Juan José, investigators of the OFRECE study, Jiménez Hernández, Rosa María, Muñiz, Javier, Roig, Eulalia, Serrano Antolín, José, Talavera Calle, Pedro   +11 more
core   +3 more sources

Síndrome de Brugada durante el embarazo

Avances en Biomedicina, 2013
El síndrome de Brugada es una causa común de muerte súbita de origen cardiaco. Los cambios electrocardiográficos característicos del síndrome están relacionados con las alteraciones de los canales de sodio.
Eduardo Reyna Villasmil, Duly Torres Cepeda, Joel Santos Bolívar, Juan Perozo Romero   +3 more
doaj  

Sudden cardiac death due to adrenal insufficiency masquerading as Brugada syndrome. Case report

Евразийский Кардиологический Журнал
Sudden cardiac death in young people in 20% of cases is caused by cardiomyopathies and channelopathies. One of the forms of channelopathies is Brugada syndrome, a hereditary disease characterized by ST segment elevation in the right precordial leads (V1 ...
N. V. Kijvatova, N. V. Chumachenko, G. A. Golovina, H. V. Gordeeva, H. D. Kosmacheva   +4 more
doaj   +1 more source

Brugada-fenokópia [PDF]

, 2016
Absztrakt A Brugada-fenokópia egy megkülönböztető új fogalma a Brugada-EKG-t utánzó kórképeknek. A Brugada-fenokópia jellemzője, hogy ha a kiváltó okot megszüntetjük, megszűnik az EKG-eltérés is.
Tomcsányi, János
core   +1 more source

Tramadol use in a patient with Brugada syndrome and morphine allergy: a case report

Journal of Pain Research, 2018
Cengiz Sahutoglu, Seden Kocabas, Fatma Zekiye Askar Ege University School of Medicine, Department of Anesthesiology and Reanimation, Izmir, Turkey Abstract: Brugada syndrome is a rare syndrome characterized by arrhythmias and sudden death, particularly ...
Sahutoglu C, Kocabas S, Askar FZ
doaj  

Acute coronary syndrome mimicking type 1 Brugada ECG

IHJ Cardiovascular Case Reports, 2018
Brugada Syndrome and acute myocardial infarction related ventricular fibrillation have similar pathophysiology. In this report, we present a case of acute coronary syndrome with Brugada like ECG complicated by malignant ventricular arrhythmias.
Kivanc Yalin, Ebru Golcuk, Ayhan Olcay
doaj   +1 more source

Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. [PDF]

, 2014
BackgroundPreserved Ratio Impaired Spirometry (PRISm), defined as a reduced FEV1 in the setting of a preserved FEV1/FVC ratio, is highly prevalent and is associated with increased respiratory symptoms, systemic inflammation, and mortality.
Beaty, Terri H, Castaldi, Peter J, Cho, Michael H, COPDGene Investigators, Crapo, James D, Curran-Everett, Douglas, Curtis, Jeffrey L, DeMeo, Dawn L, Han, MeiLan K, Hokanson, John E, Lynch, David A, Make, Barry J, Regan, Elizabeth A, Silverman, Edwin K, Wan, Emily S   +14 more
core   +2 more sources

Brugada syndrome

Gomal Journal of Medical Sciences, 2013
The Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.1 it is named by the Spanish cardiologists Pedro Brugada and Joseph Brugada. It is the major cause of sudden unexplained death syndrome (SUDS), and is the most common cause of sudden death in young ...
Demosthenes G. Katritsis, Bernard J. Gersh, A. John Camm   +2 more
openaire   +3 more sources