Results 41 to 50 of about 11,955 (223)
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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The skeletal muscle channelopathies are a rare group of genetic dis-orders whose muscular manifestations range from pure myotonia to myotonia with episodes of weakness or flaccid paralysis to episodes of weakness or flaccid paralysis alone.
Hanna MG, Suetterlin KJ
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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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The neuronal channelopathies [PDF]
Brain, 2002 This review addresses the molecular and cellular mechanisms of diseases caused by inherited mutations of ion channels in neurones. Among important recent advances is the elucidation of several dominantly inherited epilepsies caused by mutations of both voltage-gated and ligand-gated ion channels. The neuronal channelopathies show evidence of phenotypic
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Muscle channelopathies: A review
, 2023 Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the
Abigail N. Schwaede +3 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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Cardiac Channelopathies: Recognition, Treatment, Management
, 2018 The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels,
Elzomor, Amir +3 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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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
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Neurological potassium channelopathies
, 2000 Potassium channel dysfunction has been implicated in a variety of genetic and acquired neurological disorders that are collectively referred to as the potassium channelopathies.
Benatar, M
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