نتایج جستجو برای: potassium channelopathy
تعداد نتایج: 77926 فیلتر نتایج به سال:
Neuronal or axonal ion channel function can be impaired or altered in a number of disorders, such as acquired (autoantibody-mediated, toxic, and metabolic) and genetic channelopathies, and even neurodegenerative (motor neuron disease) or inflammatory diseases (multiple sclerosis, immune-mediated neuropathies). When specific channels are affected, axonal/neuronal excitability primarily alters ac...
BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p associate with EA1. We have studied 4 families and identified three new and one previously reported heterozygous point mutat...
[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].
INTRODUCTION Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS The five patients were subje...
Congenital long QT syndrome (LQTS) is an inherited cardiac channelopathy characterized by prolongation of the QT interval on electrocardiogram (ECG), and is associated with an increased risk of life-threatening ventricular arrhythmias. Mutations in over a dozen distinct genes have been implicated in the pathogenesis of this group of disorders. LQTS type 1 (LQT1), the most prevalent LQTS subtype...
Brugada syndrome is an inherited disorder characterized by a channelopathy of cardiac sodium, potassium, and calcium channel. The pathophysiology this not completely elucidated yet, however, most the reported cases are caused pathogenic alteration in SCN5A gene, leading to malfunction sodium channels. Several stressors well known unmask pathology including fever electrolytes imbalance. Three EC...
Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis of various etiologies. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment of the underlying hyperthyroidism. Because of the phenotypic similarity of these conditions, we hypothesized that ...
Short QT syndrome (SQTS) is a cardiac channelopathy associated with sudden cardiac death (SCD) and disposition to atrial-ventricular fibrillation (A-VF) (1). An accelerated ventricular repolarization (VR) abnormality develops in the heart due to an electrical stability disorder secondary to increased extracellular potassium flow in the heart (2, 3). Therefore, ventricular arrhythmias develop, w...
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