Results 11 to 20 of about 16,999 (238)
Korean Journal of Pediatrics, 2014 Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles.
June-Bum Kim
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Fayixue Zazhi, 2022 Hereditary cardiac disease accounts for a large proportion of sudden cardiac death （SCD） in young adults. Hereditary cardiac disease can be divided into hereditary structural heart disease and channelopathies.
DONG Yi-ming +3 more
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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.
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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
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Frontiers in Cardiovascular Medicine, 2023 Cardiovascular diseases are associated with several morbidities and are the most common cause of worldwide disease-related fatalities. Studies show that treatment and outcome-related differences for cardiovascular diseases disproportionately affect ...
Sahil Zaveri +9 more
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Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies
Frontiers in Systems Neuroscience, 2022 Mutations in ion channel genes underlie a number of human neurological diseases. Historically, human mutations in ion channel genes, the so-called channelopathies, have been identified to cause episodic disorders.
David D. Bushart, Vikram G. Shakkottai
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Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]
, 2020 Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo +5 more
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TRPM3 in Brain (Patho)Physiology
Frontiers in Cell and Developmental Biology, 2021 Already for centuries, humankind is driven to understand the physiological and pathological mechanisms that occur in our brains. Today, we know that ion channels play an essential role in the regulation of neural processes and control many functions of ...
Katharina Held +2 more
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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
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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
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