Results 71 to 80 of about 18,132 (269)
Frontiers in Cell and Developmental Biology, 2019 BackgroundAmong rare channelopathies BrS patients are at high risk of sudden cardiac death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations including SCN1B have been implicated to BrS.
Ibrahim El-Battrawy +38 more
doaj +1 more source
Gene therapy and editing: Novel potential treatments for neuronal channelopathies. [PDF]
, 2017 Pharmaceutical treatment can be inadequate, non-effective, or intolerable for many people suffering from a neuronal channelopathy. Development of novel treatment options, particularly those with the potential to be curative is warranted.
Lignani, G, Wykes, RC
core +2 more sources
Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model
Journal of Clinical InvestigationMyotonic dystrophy type 1 (DM1) involves misregulated alternative splicing for specific genes. We used exon or nucleotide deletion to mimic altered splicing of genes central to muscle excitation-contraction coupling in mice.
Lily A. Cisco +4 more
semanticscholar +1 more source
Pflügers Archiv - European Journal of Physiology, 2010 Store-operated Ca2+ entry (SOCE) is an important Ca2+ influx pathway in many non-excitable and some excitable cells. It is regulated by the filling state of intracellular Ca2+ stores, notably the endoplasmic reticulum (ER). Reduction in [Ca2+]ER results in activation of plasma membrane Ca2+ channels that mediate sustained Ca2+ influx which is required ...
openaire +2 more sources
Nature Clinical Practice Neurology, 2005 Autoimmune disorders of the neuromuscular junction remain a paradigm for our understanding of autoimmunity. Since the role of autoantibodies to acetylcholine receptors in the pathogenesis of myasthenia gravis was first recognized in the 1970s, a range of antibody-mediated disorders of the neuromuscular junction have been described, each associated with
Buckley, C, Vincent, A
openaire +3 more sources
Gardos channelopathy: functional analysis of a novel KCNN4 variant.
Blood Advances, 2020 We show that the novel KCNN4 variant p.S314P is a gain-of-function mutation but is less severe than the previously reported p.R352H variant. The clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers make the diagnosis of ...
E. Fermo +13 more
semanticscholar +1 more source
Frontiers in Physiology, 2020 BackgroundSudden cardiac death (SCD) is an unexpected death that occurs within an hour of the onset of symptoms. Hereditary primary electrical disorders account for up to 1/3 of all SCD cases in younger individuals and include conditions such as ...
Mohammad-Reza Ghovanloo +3 more
doaj +1 more source
Syncope in a young man: Role of Purkinje fibres in idiopathic ventricular fibrillation [PDF]
, 2017 A young man suffered cardiac arrests with polymorphic ventricular tachycardia (PVT) and ventricular fibrillation (VF) triggered by ventricular premature contractions (PVCs).
Lambiase, PD, Martin, CA, Nunn, L
core +1 more source
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome
Frontiers in Pharmacology, 2019 Short QT syndrome (SQTS) is associated with sudden cardiac arrest. There are limited data on the impact of antiarrhythmic drugs on the outcome of SQTS.Materials and Methods: We studied data that describe the clinical outcome of 62 SQTS patients treated ...
Ibrahim El-Battrawy +19 more
doaj +1 more source
The safety of sports in children with inherited arrhythmia substrates
Frontiers in Pediatrics, 2023 Sudden cardiac death (SCD) is a rare and devastating event in children and remains a leading cause of death in young athletes. Channelopathies and cardiomyopathies, in particular long QT syndrome (LQTS), catecholaminergic polymorphic ventricular ...
Abhay Katyal +3 more
doaj +1 more source