Congenital Myasthenic Syndromes in 2018
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Neuroscience
Link
http://link.springer.com/article/10.1007/s11910-018-0852-4/fulltext.html
Reference84 articles.
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3. Shen XM, Selcen D, Brengman J, Engel AG. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. 2014;83:2247–55.
4. Herrmann DN, Horvath R, Snowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, et al. Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014;95:332–9.
5. •• Engel AG, Selcen D, Shen XM, Milone M, Harper CM. Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurol Genet. 2016;2:e105. Loss of Munc13-1 function consigns Syntaxin 1B to a nonfunctional closed state; this inhibits cholinergic transmission at the neuromuscular junction and glutamatergic transmission in the brain. Inactivation of syntaxin 1B causes cortical hyperexcitability and microcepaly because syntaxin 1B is required for normal brain development.
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