Results 41 to 50 of about 8,166 (199)
ESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh +18 more
wiley +1 more source
New insights into the pathogenesis and therapeutics of Episodic Ataxia type 1.
Frontiers in Cellular Neuroscience, 2015 Episodic ataxia type 1 (EA1) is a K+ channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with ...
Maria Cristina D'Adamo +6 more
doaj +1 more source
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
Frontiers in Neurology, 2020 Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have in common two novel mutations, p.
Serena Pagliarani +14 more
doaj +1 more source
Congenital long QT syndrome: A challenging diagnosis by fetal echocardiography
Annals of Pediatric Cardiology, 2022 The diagnosis of long QT syndrome (LQTS) in utero presents many challenges for clinicians, and there is high risk for intrauterine fetal demise as life-threatening arrhythmias develop secondary to QT prolongation.
Aura Daniella Santi, Miguel Restrepo
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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 +20 more
wiley +1 more source
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels
Protein & Cell, 2017 Voltage-gated sodium (Nav) channels are essential for the rapid upstroke of action potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav channels are associated with a variety of channelopathies.
Weiyun Huang +3 more
doaj +1 more source
Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome
Epilepsia, EarlyView.Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin +10 more
wiley +1 more source
Frontiers in Pharmacology, 2022 ATP-sensitive potassium channels (KATP channels) play pivotal roles in excitable cells and link cellular metabolism with membrane excitability. The action potential converts electricity into dynamics by ion channel-mediated ion exchange to generate ...
Zhicheng Wang +4 more
doaj +1 more source
TRPV4-mediated channelopathies [PDF]
Channels, 2010 Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation of several physical and chemical stimuli and also involved in multiple physiological functions. Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in ...
Pratibha, Verma +2 more
openaire +2 more sources
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source