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channelopathies/fatica
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10 risultati
Chronic fatigue syndrome: a risk factor for osteopenia?
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No data documenting a possible depletion of bone mineral density in patients with chronic fatigue syndrome (CFS) are currently available. However, recent pathophysiological observations in CFS patients may have deleterious consequences on bone density. Firstly, the deregulation of the 2,5A
Autoimmune Channelopathies at Neuromuscular Junction.
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The neuromuscular junction, also called myoneural junction, is a site of chemical communication between a nerve fiber and a muscle cell. There are many types of channels at neuromuscular junction that play indispensable roles in neuromuscular signal transmission, such as voltage-gated calcium
Defining the occurrence and influence of alpha-delta sleep in chronic fatigue syndrome.
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BACKGROUND
Patients with chronic fatigue syndrome (CFS) present a disordered sleep pattern and frequently undergo polysomnography to exclude a primary sleep disorder. Such studies have shown reduced sleep efficiency, a reduction of deep sleep, prolonged sleep initiation, and alpha-wave intrusion
The paroxysmal dyskinesias.
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The clinical, pathophysiological and genetic features of some of the paroxysmal movement disorders are reviewed. Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is a condition in which brief and frequent dyskinetic attacks are provoked by sudden movement. PKC is more common in men and
A Tale of Two Brothers: Familial Voltage-Gated Potassium Channel Autoimmune Encephalitis
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This is the first reported case of familial voltage-gated potassium channel (VGKC) autoimmune encephalitis. The symptoms of autoimmune encephalitis can mimic infectious encephalitis with headache, fatigue, and neuropsychiatric symptoms. Autoimmunity is emerging as a distinct cause of encephalitis in
Familial Episodic Ataxias and Related Ion Channel Disorders.
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Familial episodic ataxias are unusual hereditary disorders of early onset characterized by recurrent episodes of ataxia. Most patients recover fully between attacks, but some may develop progressive ataxia with cerebellar atrophy. There are two subtypes of episodic ataxia: type 1 (EA1), with
Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering.
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Mutations in ion channels, or channelopathies, often lead to neurological disorders in which normal behavior is interrupted by attacks of debilitating symptoms such as pain, weakness or abnormal motor control. Attacks are often precipitated by similar stimuli, including stress, caffeine, ethanol,
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
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Episodic ataxia type 1 (EA1) is a K(+) channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance.
A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.
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Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been
Multichannel surface EMG: basic aspects and clinical utility.
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The generation of the surface electromyogram (sEMG) is described with regard to the properties of the single muscle fiber action potential as source, the physical aspects of volume conduction and recording configuration, and the properties and firing pattern of motor units (MUs). The spatial aspect
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