neuromuscular channelopathies in children
نویسندگان
چکیده
channelopathies are disturbances of the cellular membrane channels function. ion channels are actually membrane-bound proteins that perform key functions in virtually all human cells. these channels play pivotal role in the function of excitable tissues such as muscle and nerve. so channelopathies are diverse clinical entities involving many organs and systems (i.e., endocrine, respiratory, gastrointestinal as well as some other systems). our knowledge about these disorders is now expanding and an increasing number of human diseases associated with dysfunctional ion channels are now recognized. in neuromuscular system some of these diseases are genetically mediated while the others are immunologically induced. in my talk, i will address some of these disorders in children mainly involving neuromuscular junction as well as muscle itself. i will also emphasize on differential diagnosis, clinical, electrophysiologic, genetic and autoimmune aspects of these expanding group of disorders mainly in pediatric patients.
منابع مشابه
Neuromuscular junction channelopathies: a brief overview.
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Channelopathies
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system...
متن کاملHereditary channelopathies in neurology.
Ion channelopathies are caused by malfunction or altered regulation of ion channel proteins due to hereditary or acquired protein changes. In neurology, main phenotypes include certain forms of epilepsy, ataxia, migraine, neuropathic pain, myotonia, and muscle weakness including myasthenia and periodic paralyses. The total prevalence of monogenic channelopathies in neurology is about 35:100,000...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۶، شماره ۳، صفحات ۱۳۹۷-۱۳۹۷
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