{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:03:50Z","timestamp":1787497430513,"version":"build-2736575974"},"reference-count":11,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T00:00:00Z","timestamp":1237161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:p>Congenital myasthenic syndromes are a genetically and phenotypically heterogeneous group of hereditary disorders affecting neuromuscular junction. Mutations in the gene encoding choline acetyltransferase cause presynaptic defects. The missense mutation I336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis. Although apneic attacks occur in these cases during febrile illness in childhood, the number of reported respiratory distress episodes during infancy is scarce. Another important feature of these cases is that response to esterase inhibitors is satisfactory. We present a case of congenital myasthenic syndrome with I336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period. Interestingly, the patient had myopathic findings on electromyography and diazepam decreased severity of apneic attacks. There was also no improvement with esterase inhibitors.<\/jats:p>","DOI":"10.1177\/0883073808331083","type":"journal-article","created":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T21:37:04Z","timestamp":1237239424000},"page":"895-898","source":"Crossref","is-referenced-by-count":5,"title":["Temporary Diazepam Responsive Apneic Attacks and Congenital Myasthenic Syndrome"],"prefix":"10.1177","volume":"24","author":[{"given":"Ulu\u00e7","family":"Yi\u015f","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra Hiz","family":"Kurul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Dokuz Eyl\u00fcl University School of Medicine, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00cdbrahim","family":"\u00d6ztura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Dokuz Eyl\u00fcl University School of Medicine, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6mer","family":"\u00d6zden","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dokuz Eyl\u00fcl University School of Medicine, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcl\u00e7in","family":"Akinci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Dokuz Eyl\u00fcl University School of Medicine, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eray","family":"Dirik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Dokuz Eyl\u00fcl University School of Medicine, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2009,3,16]]},"reference":[{"key":"atypb1","volume-title":"Myasthenic Syndromes","author":"Engel A.","year":"1994","edition":"2"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399407000427"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.4.2017"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-8966(02)00273-0"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.5.761"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00336-4"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807304204"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10769"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1982.0002"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp021092"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1007\/BF01244995"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808331083","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808331083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:34:07Z","timestamp":1777494847000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073808331083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,16]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["10.1177\/0883073808331083"],"URL":"https:\/\/doi.org\/10.1177\/0883073808331083","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,16]]}}}