{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T06:30:44Z","timestamp":1785306644352,"version":"3.55.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2706301"],"award-info":[{"award-number":["2023YFC2706301"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003347","name":"Fudan University","doi-asserted-by":"publisher","award":["EK2022ZX01"],"award-info":[{"award-number":["EK2022ZX01"]}],"id":[{"id":"10.13039\/501100003347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003347","name":"Fudan University","doi-asserted-by":"publisher","award":["EK2022ZX06"],"award-info":[{"award-number":["EK2022ZX06"]}],"id":[{"id":"10.13039\/501100003347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.braindev.2025.104412","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T20:36:27Z","timestamp":1754426187000},"page":"104412","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes"],"prefix":"10.1016","volume":"47","author":[{"given":"Jing","family":"Guan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoping","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linmei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xihua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuizhen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2025.104412_bb0005","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/j.nmd.2021.07.400","article-title":"Congenital myasthenic syndromes: where do we go from here?","volume":"31","author":"Ramdas","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2025.104412_bb0010","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1002\/humu.22130","article-title":"Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients","volume":"33","author":"Abicht","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2025.104412_bb0015","doi-asserted-by":"crossref","first-page":"2899","DOI":"10.1007\/s11136-017-1651-0","article-title":"The quality of life of older people aging in place: a literature review","volume":"26","author":"Vanleerberghe","year":"2017","journal-title":"Qual Life Res"},{"key":"10.1016\/j.braindev.2025.104412_bb0020","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1007\/s11136-019-02214-9","article-title":"A systematic review of quality of life research in medicine and health sciences","volume":"28","author":"Haraldstad","year":"2019","journal-title":"Qual Life Res"},{"key":"10.1016\/j.braindev.2025.104412_bb0025","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.nmd.2009.09.009","article-title":"The PedsQL\u2122 in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the pediatric quality of life inventory\u2122 generic core scales and neuromuscular module","volume":"19","author":"Iannaccone","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"10.1016\/j.braindev.2025.104412_bb0030","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1477-7525-11-47","article-title":"Reliability and validity of the Chinese version of the pediatric quality of life InventoryTM (PedsQLTM) 3.0 neuromuscular module in children with Duchenne muscular dystrophy","volume":"15","author":"Hu","year":"2013","journal-title":"Health Qual Life Outcomes"},{"key":"10.1016\/j.braindev.2025.104412_bb0035","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1093\/brain\/124.7.1362","article-title":"End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations","volume":"124","author":"Croxen","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2025.104412_bb0040","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104412_bb0045","doi-asserted-by":"crossref","first-page":"e995","DOI":"10.1212\/WNL.0000000000006126","article-title":"Clinical reasoning: a child with arthrogryposis: congenital myasthenic syndrome-CHRNA1 mutation","volume":"91","author":"Irumudomon","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2025.104412_bb0050","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.nmd.2022.12.011","article-title":"A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1","volume":"33","author":"Rodr\u00edguez Cruz","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2025.104412_bb0055","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0896-6273(95)90080-2","article-title":"Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity","volume":"15","author":"Sine","year":"1995","journal-title":"Neuron"},{"key":"10.1016\/j.braindev.2025.104412_bb0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399407000427","article-title":"Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission","volume":"9","author":"M\u00fcller","year":"2007","journal-title":"Expert Rev Mol Med"},{"key":"10.1016\/j.braindev.2025.104412_bb0065","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0960-8966(99)00007-3","article-title":"Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene","volume":"9","author":"Ohno","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2025.104412_bb0070","article-title":"CHRNE compound heterozygous mutations in congenital myasthenic syndrome: a case report","volume":"97","author":"Yang","year":"2018","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.braindev.2025.104412_bb0075","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1007\/s13760-019-01246-9","article-title":"Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients","volume":"121","author":"G\u00fcl Mert","year":"2021","journal-title":"Acta Neurol Belg"},{"key":"10.1016\/j.braindev.2025.104412_bb0080","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1177\/0883073820987755","article-title":"Congenital Myasthenic syndrome from a single center: phenotypic and genotypic features","volume":"36","author":"Prior","year":"2021","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2025.104412_bb0085","doi-asserted-by":"crossref","first-page":"2931","DOI":"10.1038\/srep02931","article-title":"HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA","volume":"3","author":"Rahman","year":"2013","journal-title":"Sci Rep"},{"key":"10.1016\/j.braindev.2025.104412_bb0090","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1212\/WNL.53.7.1564","article-title":"A common mutation (epsilon1267delG) in congenital myasthenic patients of gypsy ethnic origin","volume":"53","author":"Abicht","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2025.104412_bb0095","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1212\/01.wnl.0000336921.51639.0b","article-title":"The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa","volume":"71","author":"Richard","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2025.104412_bb0100","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/0896-6273(95)90004-7","article-title":"Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins","volume":"15","author":"Karlin","year":"1995","journal-title":"Neuron"},{"key":"10.1016\/j.braindev.2025.104412_bb0105","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0896-6273(00)80996-4","article-title":"Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit","volume":"20","author":"Milone","year":"1998","journal-title":"Neuron"},{"issue":"1","key":"10.1016\/j.braindev.2025.104412_bb0110","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13023-020-01638-8","article-title":"Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study","volume":"16","author":"Yao","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.braindev.2025.104412_bb0115","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s12955-019-1140-y","article-title":"Reliability and validity of the Thai version of the pediatric quality of life inventory\u2122 3.0 Duchenne muscular dystrophy module in Thai children with Duchenne muscular dystrophy","volume":"17","author":"Thongsing","year":"2019","journal-title":"Health Qual Life Outcomes"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000944?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000944?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T08:00:01Z","timestamp":1764403201000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760425000944"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S0387760425000944"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104412","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104412","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104412"}}