Cardiac sodium channelopathy associated withSCN5Amutations: electrophysiological, molecular and genetic aspects
نویسندگان
چکیده
منابع مشابه
Genetic aspects of sodium channelopathy in small fiber neuropathy.
Small fiber neuropathy (SFN) is a disorder typically dominated by neuropathic pain and autonomic dysfunction, in which the thinly myelinated Aδ-fibers and unmyelinated C-fibers are selectively injured. The diagnosis SFN is based on a reduced intraepidermal nerve fiber density and/or abnormal thermal thresholds in quantitative sensory testing. The etiologies of SFN are diverse, although no appar...
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متن کاملClinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
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...
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Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...
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ژورنال
عنوان ژورنال: The Journal of Physiology
سال: 2013
ISSN: 0022-3751
DOI: 10.1113/jphysiol.2013.256461