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channelopathies/mual
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9 hasil
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine.
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Autoimmune AQP4 channelopathies and neuromyelitis optica spectrum disorders.
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Neuromyelitis optica (NMO) spectrum disorders (SD) represent an evolving group of central nervous system (CNS)-inflammatory autoimmune demyelinating diseases unified by a pathogenic autoantibody specific for the aquaporin-4 (AQP4) water channel. It was historically misdiagnosed as multiple sclerosis
Neuromyelitis optica and the evolving spectrum of autoimmune aquaporin-4 channelopathies: a decade later.
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The discovery of AQP4-IgG (a pathogenic antibody that targets the astrocytic water channel aquaporin-4), as the first sensitive and specific biomarker for any inflammatory central nervous system demyelinating disease (IDD), has shifted emphasis from the oligodendrocyte and myelin to the astrocyte as
Case report: Synergetic effect of ischaemia and increased vagal tone inducing ventricular fibrillation in a patient with Brugada syndrome
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Background: Brugada syndrome (BS) is a hereditary channelopathy associated with syncope, malignant ventricular arrhythmia, and sudden cardiac death. Right ventricular ischaemia and BS have similar underlying substrates precipitating
Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.
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BACKGROUND
It is often reported that clinical symptoms are useful in differentiating cardiac from non-cardiac syncope. Studies in the young are rare. This study was designed to capture the symptoms and signs reported by patients with cardiac syncope before the patients or their attending clinicians
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2.
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BACKGROUND
Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%-50% of
Recent progress in gastric arrhythmia: pathophysiology, clinical significance and future horizons.
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Gastric arrhythmia continues to be of uncertain diagnostic and therapeutic significance. However, recent progress has been substantial, with technical advances, theoretical insights and experimental discoveries offering new translational opportunities. The discoveries that interstitial cells of
Cyclic vomiting syndrome: evolution in our understanding of a brain-gut disorder.
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Cyclic vomiting syndrome (CVS) remains a mysterious disorder despite our increasing knowledge since its classic description by Gee in 1882. Its hallmark feature of recurrent, explosive bouts of vomiting punctuating periods of normal health causes substantial medical morbidity (50% of patients
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.
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