Results 71 to 80 of about 72,610 (277)

Genetics of Long QT Syndrome [PDF]

Methodist DeBakey Cardiovascular Journal, 2014
Long QT syndrome (LQTS) is a potentially life-threatening cardiac arrhythmia characterized by delayed myocardial repolarization that produces QT prolongation and increased risk for torsades des pointes (TdP)-triggered syncope, seizures, and sudden cardiac death (SCD) in an otherwise healthy young individual with a structurally normal heart.
David J, Tester, Michael J, Ackerman
openaire   +2 more sources

A phenomap of TTR amyloidosis to aid diagnostic screening

ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +1 more source

Idiopathic long Q-T syndrome

The Turkish Journal of Pediatrics, 1990
The association of Q-T interval prolongation, syncope and sudden death is known as the long Q-T syndrome. The syndrome may be familial, associated with congenital deafness, or idiopathic.
S Ozer, A Celiker, A Oto, S Ozme
doaj  

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J., Al-Shahrani, S., Bhuiyan, Z.A., Momenah, T.S., Wilde, A.A.M.   +4 more
core   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Síndrome de QT largo Long QT syndrome

Revista Colombiana de Cardiología, 2008
El síndrome de QT largo (SQTL) es una enfermedad que se caracteriza por la alteración electrocardiográfica en la repolarización ventricular que se manifiesta por prolongación del intervalo QT, secundaria a prolongación de la repolarización ventricular ...
Eduardo Contreras Z, Juan E Gómez M, Sandra X Zuluaga M   +2 more
doaj  

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Update on long QT syndrome [PDF]

Journal of Cardiovascular Electrophysiology, 2019
AbstractLong QT syndrome (LQTS) is an inherited disorder characterized by a prolonged QT interval in the 12‐lead electrocardiogram and increased risk of malignant arrhythmias in patients with a structurally normal heart. Since its first description in the 1950s, advances in molecular genetics have greatly improved our understanding of the cause and ...
Víctor Neira, Andrés Enriquez, Chris Simpson, Adrian Baranchuk   +3 more
openaire   +3 more sources

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source