TY - JOUR
T1 - Congenital Myasthenic Syndromes in 2018
AU - Engel, Andrew G.
N1 - Funding Information:
Acknowledgements Work done in the authors laboratory was supported by NIH Grant NS6277.
Publisher Copyright:
© 2018, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - Purpose of Review: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. Recent Findings: Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter. Summary: Exome sequencing has provided a powerful tool for identifying novel CMS. Identifying the disease genes is essential for determining optimal therapy. The landscape of the CMS is still unfolding.
AB - Purpose of Review: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. Recent Findings: Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter. Summary: Exome sequencing has provided a powerful tool for identifying novel CMS. Identifying the disease genes is essential for determining optimal therapy. The landscape of the CMS is still unfolding.
KW - Congenital myasthenic syndromes
KW - EMG
KW - Expression studies
KW - Mutation analysis
KW - Neuromuscular junction
UR - http://www.scopus.com/inward/record.url?scp=85048631188&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85048631188&partnerID=8YFLogxK
U2 - 10.1007/s11910-018-0852-4
DO - 10.1007/s11910-018-0852-4
M3 - Review article
C2 - 29892917
AN - SCOPUS:85048631188
VL - 18
JO - Current Neurology and Neuroscience Reports
JF - Current Neurology and Neuroscience Reports
SN - 1528-4042
IS - 8
M1 - 46
ER -