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channelopathies/sembap
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13 hasil
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.
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BACKGROUND
Muscle channelopathies such as paramyotonia, hyperkalemic periodic paralysis, and potassium-aggravated myotonia are caused by gain-of-function Na+ channel mutations.
METHODS
Methods: Implementation of a three-dimensional radial 23Na magnetic resonance (MR) sequence with ultra-short echo
"Status myotonicus" in Nav1.4-M1592V channelopathy.
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Nav1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to Nav1.4-M1592V channelopathy with severe and
Hypothesis: could Meniere's disease be a channelopathy?
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Meniere's disease is a clinical syndrome of uncertain aetiology but it is a widespread belief that it is related to endolymphatic hydrops. Clinically, it is a paroxysmal disorder with vertigo and subsequent deafness. It is responsive to acetazolamide and sensitive to the sodium content in the diet,
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
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We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis. Twelve patients from six families carried a KCNN4 mutation, five had the recurrent p.Arg352His mutation and one had a new deletion at the
MLC1 protein: a likely link between leukodystrophies and brain channelopathies.
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Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform leukodystrophy characterized by macrocephaly, deterioration of motor functions, epileptic seizures and mental decline. Brain edema, subcortical fluid
3 Tesla sodium inversion recovery magnetic resonance imaging allows for improved visualization of intracellular sodium content changes in muscular channelopathies.
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OBJECTIVE
To implement different sodium (²³Na)-magnetic resonance imaging (MRI) contrasts at 3 Tesla and to evaluate if a weighting toward intracellular sodium can be achieved, using 2 rare muscular channelopathies as model diseases.
METHODS
Both lower legs of 6 patients with hypokalemic periodic
miRNA in the regulation of ion channel/transporter expression.
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Ion channels and transporters are expressed in every living cell, where they participate in controlling a plethora of biological processes and physiological functions, such as excitation of cells in response to stimulation, electrical activities of cells, excitation-contraction coupling, cellular
The problem of police-related cardiac arrest.
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The term "positional asphyxia" was originally used to describe the situation in which the upper airways becomes compromised by sharp angulation of the head or neck, or where the chest wall is splinted and the diaphragm is prevented from moving because of an unusual position of the body. The term was
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
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BACKGROUND
Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients.
METHODS
We analyzed
Foetal presentation of long QT syndrome.
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Long-QT syndrome is a rare, inherited cardiac channelopathy that is characterized by arrhythmia, syncope and sudden cardiac death. Foetal symptoms are very rare and prenatal diagnosis is difficult. We report on a foetal presentation of long-QT syndrome with severe hydrops and a chaotic heart rhythm
Red blood cell membrane defects.
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We present an overview of the currently known molecular basis of red cell membrane disorders. A detailed discussion of the structure of the red cell membrane and the pathophysiology and clinical aspects of its disorders is reported. Generally speaking, hereditary spherocytosis (HS) results from a
Whole-body MRI and pathological findings in adult patients with myopathies.
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Magnetic resonance imaging (MRI) is considered the most sensitive and specific imaging technique for the detection of muscle diseases related to myopathies. Since 2008, the use of whole-body MRI (WBMRI) to evaluate myopathies has improved due to technical advances such as rolling table platform and
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.
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In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy with latent myotonia in another. In-vitro whole cell patch-clamp
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