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[Studies on therapeutic strategies for congenital myasthenic syndromes.]
Clinical Calcium 2017
Congenital myasthenic syndromes(CMS)are caused by germline mutations in genes encoding molecules expressed at the neuromuscular junction. Mutations have been identified in 25 genes. Clinical phenotypes and rational therapies widely vary depending on the defective genes. Drugs that are used for CMS include cholinesterase inhibitors, 3,4-diaminopyridine, effedrine, albuterol(salbutamol), acetazolamide, quinidine, fluoxetine, and atracurium. Some of these drugs have opposing effects. Specific drug is thus required for a specific disease mechanism. In addition, we are developing a novel therapeutic strategy that exploits the nerve sprouting activity of zonisamide for CMS.
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