{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:22:13Z","timestamp":1786980133156,"version":"build-2736575974"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T00:00:00Z","timestamp":1512000000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Association of British Neurologists"},{"DOI":"10.13039\/501100000627","name":"Guarantors of Brain","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000627","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["201064\/Z\/16\/Z"],"award-info":[{"award-number":["201064\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["98482"],"award-info":[{"award-number":["98482"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union FP7","award":["305444"],"award-info":[{"award-number":["305444"]}]},{"name":"European Union FP7","award":["305121"],"award-info":[{"award-number":["305121"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1007\/s00415-017-8689-3","type":"journal-article","created":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T00:07:10Z","timestamp":1512000430000},"page":"194-203","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients"],"prefix":"10.1007","volume":"265","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8025-7989","authenticated-orcid":false,"given":"Grace","family":"McMacken","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger G.","family":"Whittaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5182-2141","authenticated-orcid":false,"given":"Marina","family":"Dusl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2324-8001","authenticated-orcid":false,"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,11,30]]},"reference":[{"key":"8689_CR1","volume-title":"GeneReviews(\u00ae)","author":"A Abicht","year":"1993","unstructured":"Abicht A, M\u00fcller J, Lochm\u00fcller H (1993) Congenital myasthenic syndromes. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(\u00ae). University of Washington, Seattle"},{"key":"8689_CR2","doi-asserted-by":"publisher","first-page":"2017","DOI":"10.1073\/pnas.98.4.2017","volume":"98","author":"K Ohno","year":"2001","unstructured":"Ohno K, Tsujino A, Brengman JM et al (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 98:2017\u20132022. https:\/\/doi.org\/10.1073\/pnas.98.4.2017","journal-title":"Proc Natl Acad Sci USA"},{"key":"8689_CR3","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1002\/humu.22823","volume":"36","author":"J Arredondo","year":"2015","unstructured":"Arredondo J, Lara M, Gospe SM et al (2015) Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations. Hum Mutat 36:881\u2013893. https:\/\/doi.org\/10.1002\/humu.22823","journal-title":"Hum Mutat"},{"key":"8689_CR4","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1002\/humu.22130","volume":"33","author":"A Abicht","year":"2012","unstructured":"Abicht A, Dusl M, Gallenm\u00fcller C et al (2012) Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 33:1474\u20131484. https:\/\/doi.org\/10.1002\/humu.22130","journal-title":"Hum Mutat"},{"key":"8689_CR5","doi-asserted-by":"publisher","first-page":"2143","DOI":"10.1093\/brain\/aww130","volume":"139","author":"E O\u2019Connor","year":"2016","unstructured":"O\u2019Connor E, T\u00f6pf A, M\u00fcller JS et al (2016) Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 139:2143\u20132153. https:\/\/doi.org\/10.1093\/brain\/aww130","journal-title":"Brain"},{"key":"8689_CR6","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/0168-5597(93)90130-H","volume":"89","author":"RP Kennett","year":"1993","unstructured":"Kennett RP, Fawcett PR (1993) Repetitive nerve stimulation of anconeus in the assessment of neuromuscular transmission disorders. Electroencephalogr Clin Neurophysiol 89:170\u2013176","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"8689_CR7","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1002\/mus.20568","volume":"34","author":"M Benatar","year":"2006","unstructured":"Benatar M, Hammad M, Doss-Riney H (2006) Concentric-needle single-fiber electromyography for the diagnosis of myasthenia gravis. Muscle Nerve 34:163\u2013168. https:\/\/doi.org\/10.1002\/mus.20568","journal-title":"Muscle Nerve"},{"key":"8689_CR8","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1542\/peds.79.2.292","volume":"79","author":"American Academy of Pediatrics","year":"1987","unstructured":"American Academy of Pediatrics (1987) National Institutes of Health Consensus Development Conference on Infantile Apnea and Home Monitoring Sept 29 to Oct 1, 1986. Pediatrics 79:292\u2013299","journal-title":"Pediatrics"},{"key":"8689_CR9","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1136\/bmj.2.6087.600","volume":"2","author":"BR Keeton","year":"1977","unstructured":"Keeton BR, Southall E, Rutter N et al (1977) Cardiac conduction disorders in six infants with \u201cnear-miss\u201d sudden infant deaths. Br Med J 2:600\u2013601","journal-title":"Br Med J"},{"key":"8689_CR10","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1440-1754.1991.tb00417.x","volume":"27","author":"PM Rahilly","year":"1991","unstructured":"Rahilly PM (1991) The pneumographic and medical investigation of infants suffering apparent life threatening episodes. J Paediatr Child Health 27:349\u2013353","journal-title":"J Paediatr Child Health"},{"key":"8689_CR11","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1136\/emj.19.1.11","volume":"19","author":"F Davies","year":"2002","unstructured":"Davies F, Gupta R (2002) Apparent life threatening events in infants presenting to an emergency department. Emerg Med J EMJ 19:11\u201316. https:\/\/doi.org\/10.1136\/emj.19.1.11","journal-title":"Emerg Med J EMJ"},{"key":"8689_CR12","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/S0022-3476(05)81747-0","volume":"123","author":"R Arens","year":"1993","unstructured":"Arens R, Gozal D, Williams JC et al (1993) Recurrent apparent life-threatening events during infancy: a manifestation of inborn errors of metabolism. J Pediatr 123:415\u2013418. https:\/\/doi.org\/10.1016\/S0022-3476(05)81747-0","journal-title":"J Pediatr"},{"key":"8689_CR13","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1001\/archneur.56.9.1121","volume":"56","author":"DS Baskin","year":"1999","unstructured":"Baskin DS, Browning JL, Pirozzolo FJ et al (1999) Brain choline acetyltransferase and mental function in Alzheimer disease. Arch Neurol 56:1121\u20131123","journal-title":"Arch Neurol"},{"key":"8689_CR14","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jnnp.38.7.669","volume":"38","author":"SM Aquilonius","year":"1975","unstructured":"Aquilonius SM, Eckern\u00e5s SA, Sundwall A (1975) Regional distribution of choline acetyltransferase in the human brain: changes in Huntington\u2019s chorea. J Neurol Neurosurg Psychiatr 38:669\u2013677","journal-title":"J Neurol Neurosurg Psychiatr"},{"key":"8689_CR15","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1007\/s004010100372","volume":"102","author":"PM Mattila","year":"2001","unstructured":"Mattila PM, R\u00f6ytt\u00e4 M, L\u00f6nnberg P et al (2001) Choline acetyltransferase activity and striatal dopamine receptors in Parkinson\u2019s disease in relation to cognitive impairment. Acta Neuropathol (Berl) 102:160\u2013166","journal-title":"Acta Neuropathol (Berl)"},{"key":"8689_CR16","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1176\/ajp.150.3.454","volume":"150","author":"CN Karson","year":"1993","unstructured":"Karson CN, Casanova MF, Kleinman JE, Griffin WS (1993) Choline acetyltransferase in schizophrenia. Am J Psychiatry 150:454\u2013459. https:\/\/doi.org\/10.1176\/ajp.150.3.454","journal-title":"Am J Psychiatry"},{"key":"8689_CR17","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/00005072-199203000-00001","volume":"51","author":"HC Kinney","year":"1992","unstructured":"Kinney HC, Filiano JJ, Harper RM (1992) The neuropathology of the sudden infant death syndrome. A review. J Neuropathol Exp Neurol 51:115\u2013126","journal-title":"J Neuropathol Exp Neurol"},{"key":"8689_CR18","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1046\/j.1440-1827.1999.00977.x","volume":"49","author":"Y Oda","year":"1999","unstructured":"Oda Y (1999) Choline acetyltransferase: the structure, distribution and pathologic changes in the central nervous system. Pathol Int 49:921\u2013937","journal-title":"Pathol Int"},{"key":"8689_CR19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.033","author":"S Bauch\u00e9","year":"2016","unstructured":"Bauch\u00e9 S, O\u2019Regan S, Azuma Y et al (2016) Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am J Hum Genet. https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.033","journal-title":"Am J Hum Genet"},{"key":"8689_CR20","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003179","author":"GL O\u2019Grady","year":"2016","unstructured":"O\u2019Grady GL, Verschuuren C, Yuen M et al (2016) Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. https:\/\/doi.org\/10.1212\/WNL.0000000000003179","journal-title":"Neurology"},{"key":"8689_CR21","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1212\/WNL.0000000000003720","volume":"88","author":"A Aran","year":"2017","unstructured":"Aran A, Segel R, Kaneshige K et al (2017) Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology 88:1021\u20131028. https:\/\/doi.org\/10.1212\/WNL.0000000000003720","journal-title":"Neurology"},{"key":"8689_CR22","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000105","author":"AG Engel","year":"2016","unstructured":"Engel AG, Selcen D, Shen X-M et al (2016) Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurol Genet 2. https:\/\/doi.org\/10.1212\/NXG.0000000000000105","journal-title":"Neurol Genet 2"},{"key":"8689_CR23","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1212\/WNL.0000000000001079","volume":"83","author":"X-M Shen","year":"2014","unstructured":"Shen X-M, Selcen D, Brengman J, Engel AG (2014) Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology 83:2247\u20132255. https:\/\/doi.org\/10.1212\/WNL.0000000000001079","journal-title":"Neurology"},{"key":"8689_CR24","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1212\/01.WNL.0000085865.55513.AE","volume":"61","author":"G Burke","year":"2003","unstructured":"Burke G, Cossins J, Maxwell S et al (2003) Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology 61:826\u2013828","journal-title":"Neurology"},{"key":"8689_CR25","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/j.nmd.2015.10.013","volume":"26","author":"D Natera-de Benito","year":"2016","unstructured":"Natera-de Benito D, Bestu\u00e9 M, Vilchez JJ et al (2016) Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscul Disord 26:153\u2013159. https:\/\/doi.org\/10.1016\/j.nmd.2015.10.013","journal-title":"Neuromuscul Disord"},{"key":"8689_CR26","doi-asserted-by":"publisher","first-page":"e104","DOI":"10.1136\/jmg.2004.021139","volume":"41","author":"J Muller","year":"2004","unstructured":"Muller J, Abicht A, Burke G et al (2004) The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet 41:e104. https:\/\/doi.org\/10.1136\/jmg.2004.021139","journal-title":"J Med Genet"},{"key":"8689_CR27","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S0896-6273(00)80289-5","volume":"17","author":"K Ohno","year":"1996","unstructured":"Ohno K, Wang H-L, Milone M et al (1996) Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor \u03b5 subunit. Neuron 17:157\u2013170. https:\/\/doi.org\/10.1016\/S0896-6273(00)80289-5","journal-title":"Neuron"},{"key":"8689_CR28","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1152\/physrev.00015.2011","volume":"92","author":"SM Sine","year":"2012","unstructured":"Sine SM (2012) End-plate acetylcholine receptor: structure, mechanism, pharmacology, and disease. Physiol Rev 92:1189\u20131234. https:\/\/doi.org\/10.1152\/physrev.00015.2011","journal-title":"Physiol Rev"},{"key":"8689_CR29","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.nmd.2013.10.009","volume":"24","author":"R Webster","year":"2014","unstructured":"Webster R, Liu W-W, Chaouch A et al (2014) Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the \u03b1\u2013\u03b5 subunit interface. Neuromuscul Disord 24:143\u2013147. https:\/\/doi.org\/10.1016\/j.nmd.2013.10.009","journal-title":"Neuromuscul Disord"},{"key":"8689_CR30","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.ajhg.2012.09.019","volume":"91","author":"KES Barwick","year":"2012","unstructured":"Barwick KES, Wright J, Al-Turki S et al (2012) Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet 91:1103\u20131107. https:\/\/doi.org\/10.1016\/j.ajhg.2012.09.019","journal-title":"Am J Hum Genet"},{"key":"8689_CR31","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1093\/brain\/awm325","volume":"131","author":"V Mihaylova","year":"2008","unstructured":"Mihaylova V, M\u00fcller JS, Vilchez JJ et al (2008) Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain J Neurol 131:747\u2013759. https:\/\/doi.org\/10.1093\/brain\/awm325","journal-title":"Brain J Neurol"},{"key":"8689_CR32","doi-asserted-by":"crossref","first-page":"9654","DOI":"10.1073\/pnas.95.16.9654","volume":"95","author":"K Ohno","year":"1998","unstructured":"Ohno K, Brengman J, Tsujino A, Engel AG (1998) Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci 95:9654\u20139659","journal-title":"Proc Natl Acad Sci"},{"key":"8689_CR33","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/j.nmd.2011.09.002","volume":"22","author":"I Wargon","year":"2012","unstructured":"Wargon I, Richard P, Kuntzer T, et al (2012) Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord 22:318\u2013324. https:\/\/doi.org\/10.1016\/j.nmd.2011.09.002","journal-title":"Neuromuscul Disord"},{"key":"8689_CR34","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/ana.10077","volume":"51","author":"CM Gomez","year":"2002","unstructured":"Gomez CM, Maselli RA, Vohra BPS et al (2002) Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 51:102\u2013112","journal-title":"Ann Neurol"},{"issue":"10","key":"8689_CR35","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1002\/humu.23043","volume":"37","author":"XM Shen","year":"2016","unstructured":"Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG (2016) Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating. Hum Mutat 37(10):1051\u20131059. https:\/\/doi.org\/10.1002\/humu.23043","journal-title":"Hum Mutat"},{"key":"8689_CR36","doi-asserted-by":"publisher","first-page":"2784","DOI":"10.1093\/brain\/awl188","volume":"129","author":"JS M\u00fcller","year":"2006","unstructured":"M\u00fcller JS, Baumeister SK, Schara U et al (2006) CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain J Neurol 129:2784\u20132793. https:\/\/doi.org\/10.1093\/brain\/awl188","journal-title":"Brain J Neurol"},{"key":"8689_CR37","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1002\/ana.24389","volume":"77","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Feldman DH, Ramirez S et al (2015) Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome. Ann Neurol 77:840\u2013850. https:\/\/doi.org\/10.1002\/ana.24389","journal-title":"Ann Neurol"},{"key":"8689_CR38","doi-asserted-by":"publisher","first-page":"7377","DOI":"10.1073\/pnas.1230273100","volume":"100","author":"A Tsujino","year":"2003","unstructured":"Tsujino A, Maertens C, Ohno K et al (2003) Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci 100:7377\u20137382. https:\/\/doi.org\/10.1073\/pnas.1230273100","journal-title":"Proc Natl Acad Sci"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-017-8689-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-017-8689-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-017-8689-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T13:54:14Z","timestamp":1660053254000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-017-8689-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,30]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["8689"],"URL":"https:\/\/doi.org\/10.1007\/s00415-017-8689-3","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,30]]}}}