U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Vanhaesebrouck AE, Beeson D
Curr Opin Neurol 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. PMID: 31361628Free PMC Article
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
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

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
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Shieh PB, Oh SJ
Neurol Clin 2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007. PMID: 29655455
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

Diagnosis

Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
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
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
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

Therapy

Akkol EK, Karatoprak GŞ, Carpar E, Hussain Y, Khan H, Aschner M
Curr Neuropharmacol 2022 Mar 4;20(3):594-610. doi: 10.2174/1570159X19666210924092627. PMID: 34561984Free PMC Article
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
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
Engel AG
Neurotherapeutics 2007 Apr;4(2):252-7. doi: 10.1016/j.nurt.2007.01.001. PMID: 17395135Free PMC Article

Prognosis

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
Schara U, Lochmüller H
Neurotherapeutics 2008 Oct;5(4):542-7. doi: 10.1016/j.nurt.2008.07.003. PMID: 19019305Free PMC Article
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
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
Engel AG, Ohno K, Sine SM
Mol Neurobiol 2002 Oct-Dec;26(2-3):347-67. doi: 10.1385/MN:26:2-3:347. PMID: 12428764

Clinical prediction guides

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
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
Burgess RW, Cox GA, Seburn KL
Methods Mol Biol 2016;1438:349-94. doi: 10.1007/978-1-4939-3661-8_19. PMID: 27150099
Engel AG
Curr Neurol Neurosci Rep 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. PMID: 21997714Free PMC Article

Recent systematic reviews

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...