{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:06:18Z","timestamp":1790064378616,"version":"4.0.1"},"reference-count":34,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"vor","delay-in-days":181,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council UK","doi-asserted-by":"crossref","award":["98482"],"award-info":[{"award-number":["98482"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004963","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["305444"],"award-info":[{"award-number":["305444"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["305121"],"award-info":[{"award-number":["305121"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.ajhg.2016.06.033","type":"journal-article","created":{"date-parts":[[2016,8,30]],"date-time":"2016-08-30T21:53:30Z","timestamp":1472594010000},"page":"753-761","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":83,"title":["Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea"],"prefix":"10.1016","volume":"99","author":[{"given":"St\u00e9phanie","family":"Bauch\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seana","family":"O\u2019Regan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiteru","family":"Azuma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Laffargue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"McMacken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sternberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Brochier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Buon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nassima","family":"Bouzidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Topf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lac\u00e8ne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganaelle","family":"Remerand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Beaufrere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Pebrel-Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salima","family":"El\u00a0Chehadeh-Djebbar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannis","family":"Duffourd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Mongini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen\u00a0Magdalena","family":"Burloiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niculina","family":"Butoianu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Sandu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Nougues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"B\u0153uf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Lechner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Fontaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Strochlic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochmuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Nicole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.06.033_bib1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.2174\/187152412800792724","article-title":"Choline transporter CHT regulation and function in cholinergic neurons","volume":"12","author":"Black","year":"2012","journal-title":"Cent. Nerv. Syst. Agents Med. Chem."},{"key":"10.1016\/j.ajhg.2016.06.033_bib2","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/jb\/mvu047","article-title":"Molecular properties of the high-affinity choline transporter CHT1","volume":"156","author":"Haga","year":"2014","journal-title":"J.\u00a0Biochem."},{"key":"10.1016\/j.ajhg.2016.06.033_bib3","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/S1474-4422(14)70201-7","article-title":"Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment","volume":"14","author":"Engel","year":"2015","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ajhg.2016.06.033_bib4","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/S0960-8966(01)00336-4","article-title":"Congenital myasthenic syndrome associated with episodic apnea and sudden infant death","volume":"12","author":"Byring","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.06.033_bib5","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1073\/pnas.98.4.2017","article-title":"Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans","volume":"98","author":"Ohno","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.06.033_bib6","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.ajhg.2012.09.019","article-title":"Defective presynaptic choline transport underlies hereditary motor neuropathy","volume":"91","author":"Barwick","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.06.033_bib7","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/brain\/awu160","article-title":"Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy","volume":"137","author":"Nicole","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2016.06.033_bib8","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1111\/cge.12732","article-title":"Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test","volume":"89","author":"Thevenon","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2016.06.033_bib9","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/72059","article-title":"Identification and characterization of the high-affinity choline transporter","volume":"3","author":"Okuda","year":"2000","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2016.06.033_bib10","doi-asserted-by":"crossref","first-page":"42826","DOI":"10.1074\/jbc.M112.405027","article-title":"Transmembrane topology and oligomeric structure of the high-affinity choline transporter","volume":"287","author":"Okuda","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.033_bib11","doi-asserted-by":"crossref","first-page":"45315","DOI":"10.1074\/jbc.M207742200","article-title":"Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate","volume":"277","author":"Okuda","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.033_bib12","doi-asserted-by":"crossref","first-page":"8762","DOI":"10.1073\/pnas.0401667101","article-title":"Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice","volume":"101","author":"Ferguson","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.06.033_bib13","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/j.nmd.2013.07.005","article-title":"Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome","volume":"23","author":"Bauch\u00e9","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.06.033_bib14","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ar.1092360315","article-title":"Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors","volume":"236","author":"Hesselmans","year":"1993","journal-title":"Anat. Rec."},{"key":"10.1016\/j.ajhg.2016.06.033_bib15","doi-asserted-by":"crossref","first-page":"e12892","DOI":"10.1371\/journal.pone.0012892","article-title":"A novel system for the efficient generation of antibodies following immunization of unique knockout mouse strains","volume":"5","author":"Hrabovska","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.06.033_bib16","doi-asserted-by":"crossref","first-page":"11870","DOI":"10.1523\/JNEUROSCI.0329-14.2014","article-title":"Schwann cells sense and control acetylcholine spillover at the neuromuscular junction by \u03b17 nicotinic receptors and butyrylcholinesterase","volume":"34","author":"Petrov","year":"2014","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2016.06.033_bib17","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.ejpn.2009.09.009","article-title":"Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations","volume":"14","author":"Schara","year":"2010","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ajhg.2016.06.033_bib18","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1002\/humu.21560","article-title":"Functional consequences and structural interpretation of mutations of human choline acetyltransferase","volume":"32","author":"Shen","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2016.06.033_bib19","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.devbrainres.2005.03.013","article-title":"Expression of high affinity choline transporter during mouse development in\u00a0vivo and its upregulation by NGF and BMP-4 in\u00a0vitro","volume":"157","author":"Berse","year":"2005","journal-title":"Brain Res. Dev. Brain Res."},{"key":"10.1016\/j.ajhg.2016.06.033_bib20","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1124\/jpet.107.133330","article-title":"The butyrylcholinesterase knockout mouse as a model for human butyrylcholinesterase deficiency","volume":"324","author":"Li","year":"2008","journal-title":"J.\u00a0Pharmacol. Exp. Ther."},{"key":"10.1016\/j.ajhg.2016.06.033_bib21","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.cca.2006.11.005","article-title":"A medical health report on individuals with silent butyrylcholinesterase in the Vysya community of India","volume":"378","author":"Manoharan","year":"2007","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ajhg.2016.06.033_bib22","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/sj.bjp.0705010","article-title":"Butyrylcholinesterase and acetylcholinesterase activity and quantal transmitter release at normal and acetylcholinesterase knockout mouse neuromuscular junctions","volume":"138","author":"Minic","year":"2003","journal-title":"Br. J. Pharmacol."},{"key":"10.1016\/j.ajhg.2016.06.033_bib23","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1136\/jmg.29.3.197","article-title":"Distal spinal muscular atrophy with vocal cord paralysis","volume":"29","author":"Pridmore","year":"1992","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.06.033_bib24","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1136\/practneurol-2015-001307","article-title":"Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis","volume":"16","author":"Ingram","year":"2016","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.ajhg.2016.06.033_bib25","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1086\/339465","article-title":"Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome","volume":"70","author":"Ohno","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.06.033_bib26","doi-asserted-by":"crossref","first-page":"7377","DOI":"10.1073\/pnas.1230273100","article-title":"Myasthenic syndrome caused by mutation of the SCN4A sodium channel","volume":"100","author":"Tsujino","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.06.033_bib27","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1212\/WNL.0000000000002264","article-title":"A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis","volume":"86","author":"Habbout","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2016.06.033_bib28","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nmd.2011.08.002","article-title":"Clinical features in a series of fast channel congenital myasthenia syndrome","volume":"22","author":"Palace","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.06.033_bib29","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1601-183X.2006.00269.x","article-title":"Deficits in acetylcholine homeostasis, receptors and behaviors in choline transporter heterozygous mice","volume":"6","author":"Bazalakova","year":"2007","journal-title":"Genes Brain Behav."},{"key":"10.1016\/j.ajhg.2016.06.033_bib30","doi-asserted-by":"crossref","first-page":"H799","DOI":"10.1152\/ajpheart.00170.2010","article-title":"Tachycardia, reduced vagal capacity, and age-dependent ventricular dysfunction arising from diminished expression of the presynaptic choline transporter","volume":"299","author":"English","year":"2010","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.ajhg.2016.06.033_bib31","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/j.neuroscience.2004.10.028","article-title":"Cholinergic neurotransmission in the preB\u00f6tzinger Complex modulates excitability of inspiratory neurons and regulates respiratory rhythm","volume":"130","author":"Shao","year":"2005","journal-title":"Neuroscience"},{"key":"10.1016\/j.ajhg.2016.06.033_bib32","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-3565(25)11593-0","article-title":"A new group of respiratory paralyzants.\u00a0I. The \u201chemicholiniums\u201d","volume":"115","author":"Schueler","year":"1955","journal-title":"J.\u00a0Pharmacol. Exp. Ther."},{"key":"10.1016\/j.ajhg.2016.06.033_bib33","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0163-7258(00)00059-0","article-title":"Neuropharmacology of control of respiratory rhythm and pattern in mature mammals","volume":"86","author":"Haji","year":"2000","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.ajhg.2016.06.033_bib34","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1007\/s11689-009-9033-8","article-title":"Choline transporter gene variation is associated with attention-deficit hyperactivity disorder","volume":"1","author":"English","year":"2009","journal-title":"J.\u00a0Neurodev. Disord."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302713?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302713?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T11:39:18Z","timestamp":1749555558000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716302713"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["S0002929716302713"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.033","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.033","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}