Results 21 to 30 of about 18,132 (269)
SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond
Philosophical Transactions of the Royal Society of London. Biological Sciences, 2023 Influx of sodium ions through voltage-gated sodium channels in cardiomyocytes is essential for proper electrical conduction within the heart. Both acquired conditions associated with sodium channel dysfunction (myocardial ischaemia, heart failure) as ...
C. Remme
semanticscholar +1 more source
Kidney International, 2000 Calcium is an important intracellular signaling molecule, and altered calcium channel function can cause widespread cellular changes. Genetic mutations in calcium channels that cause what appear to be trivial alterations of calcium currents in vitro can result in serious diseases in muscles and the nervous system.
Lorenzon, Nancy M., Beam, Kurt G.
openaire +2 more sources
Hypokalemic Periodic Paralysis Associated With a Rare <i>CACNA1S</i> Variant (p.Leu1243Val): Expanding the Mutational Spectrum. [PDF]
Case Rep GenetBackground Hypokalemic periodic paralysis (HypoPP) is a rare skeletal muscle channelopathy, most often caused by mutations in CACNA1S or SCN4A. Most pathogenic CACNA1S mutations affect arginine residues in S4 voltage‐sensor domains, but other variants remain poorly understood.
Nader MA.
europepmc +2 more sources
Frontiers in Cell and Developmental Biology, 2023 Different ion channels present in the osteoblast regulate the cellular functions including bio-mineralization, a process that is a highly stochastic event. Cellular events and molecular signaling involved in such process is poorly understood.
T. Acharya +6 more
semanticscholar +1 more source
Scientific Reports, 2022 To investigate the sex differences in disability-adjusted life years (DALYs) due to ischemic stroke (IS) by year, location and age. We extracted sex-specific data on DALYs number, age-standardized DALYs rate (ASDR) and all-age DALYs rate of IS by year ...
Miaomiao Cao +4 more
doaj +1 more source
Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report
Frontiers in Pediatrics, 2022 Early repolarization syndrome is rare in children. Mutation of genes encoding ion channels could display mixed electrophysiological phenotype of Kv4.3 including both cardiac phenotype (early repolarization syndrome, atrial fibrillation) and cerebral ...
Yi Zhang, He Jiang, Xiao-mei Li
doaj +1 more source
Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]
, 2013 Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Doehring, Alexandra +4 more
core +9 more sources
Brugada Syndrome: More than a Monogenic Channelopathy
Biomedicines, 2023 Brugada syndrome (BrS) is an inherited cardiac channelopathy first diagnosed in 1992 but still considered a challenging disease in terms of diagnosis, arrhythmia risk prediction, pathophysiology and management.
A. Liantonio +9 more
semanticscholar +1 more source
Neurological channelopathies [PDF]
Postgraduate Medical Journal, 2005 Abstract Ion channels are membrane-bound proteins that perform key functions in virtually all human cells. Such channels are critically important for the normal function of the excitable tissues of the nervous system, such as muscle and brain.
T D, Graves, M G, Hanna
openaire +2 more sources
The Journal of Headache and Pain, 2023 Background Trace amines, such as tyramine, are endogenous amino acid metabolites that have been hypothesized to promote headache. However, the underlying cellular and molecular mechanisms remain unknown.
Yuan Zhang +7 more
doaj +1 more source