کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041855 | 1189331 | 2012 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Paroxysmal neuromyotonia: A new sporadic channelopathy
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Paroxysmal neuromyotonia: A new sporadic channelopathy Paroxysmal neuromyotonia: A new sporadic channelopathy](/preview/png/6041855.png)
چکیده انگلیسی
Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation. Serum voltage-gated potassium channel antibody was also negative. He was successfully treated with acetazolamide and carbamazepine. This appears to be a new neuromuscular disease, “paroxysmal neuromyotonia”, the etiology of which is still unknown.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 22, Issue 6, June 2012, Pages 479-482
Journal: Neuromuscular Disorders - Volume 22, Issue 6, June 2012, Pages 479-482
نویسندگان
Teeratorn Pulkes, Charungthai Dejthevaporn, Metha Apiwattanakul, Chutima Papsing, Michael G. Hanna,