Results 21 to 30 of about 8,166 (199)
Annals of Pediatric Cardiology, 2020 A 5-year-old boy with the history of intractable seizure for the past 2 years was transferred to the emergency room for cardiopulmonary resuscitation because of the prolonged seizure and profound cyanosis.
Reza Shabanian +6 more
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EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies
Frontiers in Physiology, 2022 In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption.
Jacky Lo +4 more
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Fenestropathy of Voltage-Gated Sodium Channels
Frontiers in Pharmacology, 2022 Voltage-gated sodium channels (Nav) are responsible for the initiation and propagation of action potentials in excitable cells. From pain to heartbeat, these integral membrane proteins are the ignition stations for every sensation and action in human ...
Tamer M. Gamal El-Din +2 more
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Frontiers in Neurology, 2020 The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia +6 more
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Case Reports in Neurological Medicine, 2016 Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. Case report. Case Report.
Ashley Cannon +3 more
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Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009 Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide variety of symptoms. Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis.
Planells-Cases, Rosa, Jentsch, Thomas J.
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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 ...
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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
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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 ...
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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
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