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Synaptic congenital myasthenic syndromes

MedGen UID:
1843272
•Concept ID:
C5681640
•
Disease or Syndrome
Orphanet: ORPHA98915

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Synaptic congenital myasthenic syndromes

Professional guidelines

PubMed

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D
Curr Opin Neurol 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. PMID: 31361628Free PMC Article
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG
Int J Mol Sci 2023 Feb 13;24(4) doi: 10.3390/ijms24043730. PMID: 36835142Free PMC Article
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Congenital Myasthenic Syndromes.
Shieh PB, Oh SJ
Neurol Clin 2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007. PMID: 29655455
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B
Handb Clin Neurol 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. PMID: 23622369

Diagnosis

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG
Int J Mol Sci 2023 Feb 13;24(4) doi: 10.3390/ijms24043730. PMID: 36835142Free PMC Article
Congenital Myasthenic Syndromes.
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B
Handb Clin Neurol 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. PMID: 23622369

Therapy

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Therapeutic strategies in congenital myasthenic syndromes.
Schara U, Lochmüller H
Neurotherapeutics 2008 Oct;5(4):542-7. doi: 10.1016/j.nurt.2008.07.003. PMID: 19019305Free PMC Article
The therapy of congenital myasthenic syndromes.
Engel AG
Neurotherapeutics 2007 Apr;4(2):252-7. doi: 10.1016/j.nurt.2007.01.001. PMID: 17395135Free PMC Article

Prognosis

The unfolding landscape of the congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D
Ann N Y Acad Sci 2018 Feb;1413(1):25-34. Epub 2018 Jan 21 doi: 10.1111/nyas.13539. PMID: 29355968Free PMC Article
Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.
Schara U, Della Marina A, Abicht A
Neuropediatrics 2012 Aug;43(4):184-93. Epub 2012 Aug 21 doi: 10.1055/s-0032-1323850. PMID: 22911480
Therapeutic strategies in congenital myasthenic syndromes.
Schara U, Lochmüller H
Neurotherapeutics 2008 Oct;5(4):542-7. doi: 10.1016/j.nurt.2008.07.003. PMID: 19019305Free PMC Article
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG, Ohno K, Sine SM
J Neurocytol 2003 Jun-Sep;32(5-8):1017-37. doi: 10.1023/B:NEUR.0000020639.22895.28. PMID: 15034283

Clinical prediction guides

Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
The unfolding landscape of the congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D
Ann N Y Acad Sci 2018 Feb;1413(1):25-34. Epub 2018 Jan 21 doi: 10.1111/nyas.13539. PMID: 29355968Free PMC Article
Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction.
Shi L, Fu AK, Ip NY
Trends Neurosci 2012 Jul;35(7):441-53. Epub 2012 May 25 doi: 10.1016/j.tins.2012.04.005. PMID: 22633140
Congenital myasthenic syndromes in 2012.
Engel AG
Curr Neurol Neurosci Rep 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. PMID: 21997714Free PMC Article
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG, Ohno K, Sine SM
J Neurocytol 2003 Jun-Sep;32(5-8):1017-37. doi: 10.1023/B:NEUR.0000020639.22895.28. PMID: 15034283

Recent systematic reviews

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article

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