Results 41 to 50 of about 16,843 (240)
Frontiers in Physiology, 2020 Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign ...
Francesco Miceli +14 more
doaj +1 more source
Pflügers Archiv - European Journal of Physiology, 2009 Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. Mutations in KCNH2 (the gene that encodes hERG1) causes LQT2, one of the most common forms of long QT syndrome, a disorder of cardiac repolarization that predisposes affected subjects to ...
openaire +2 more sources
KCNMA1 -Linked Channelopathy [PDF]
Journal of General Physiology, 2019 KCNMA1 encodes the pore-forming α subunit of the ‘Big K + ’ (BK) large conductance calcium and voltage-activated K + channel (K Ca 1.1).
Cole S. Bailey +4 more
openaire +2 more sources
Cells, 2021 Voltage-gated sodium channels (Navs) are critical determinants of cellular excitability. These ion channels exist as large heteromultimeric structures and their activity is tightly controlled. In neurons, the isoform Nav1.6 is highly enriched at the axon
Agnes Zybura +2 more
doaj +1 more source
Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]
, 2011 Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode +22 more
core +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
Mammalian Brain Ca2+ Channel Activity Transplanted into Xenopus laevis Oocytes
Membranes, 2022 Several mutations on neuronal voltage-gated Ca2+ channels (VGCC) have been shown to cause neurological disorders and contribute to the initiation of epileptic seizures, migraines, or cerebellar degeneration.
Matthieu Rousset +7 more
doaj +1 more source
Regulation of gap junction function; the role of nitric oxide. [PDF]
, 2013 Myocardial ischemia resulting from sudden occlusion of a coronary artery is one of the major causes in the appearance of severe, often life-threatening ventricular arrhythmias.
Gönczi, Márton +3 more
core +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
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome
Frontiers in Pediatrics, 2021 Background: Sudden infant death syndrome (SIDS) is a tragic incident which remains a mystery even after post-mortem investigation and thorough researches.Methods: This comprehensive review is based on the genes reported in the molecular autopsy studies ...
Riffat Mehboob +14 more
doaj +1 more source