{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T14:22:16Z","timestamp":1778941336112,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"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":["Anaesth Intensive Care"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>This report describes anaesthesia for consanguineous siblings with the rare genetic condition hyperekplexia. This condition is also known as \u2018stiff baby syndrome\u2019 or \u2018startle disease\u2019. Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the \u03b1-1 subunit of the inhibitory glycine receptors in the caudal pontine reticular formation leading to neuronal hyperexcitability. The patients present with a potentially life-threatening exaggerated startle reflex. Life-threatening spasms may be terminated by forced flexion of the head and legs towards the trunk. Anaesthesia management should avoid stimuli which trigger the reflex. Clonazepam and diazepam are used to prevent and control the spasms. Propofol and other agents with the ability to potentiate both GABAergic and glycinergic transmission may be appropriate choices for anaesthesia. Reaction to neuromuscular blockers may be unpredictable. Both our patients had relatively prolonged but otherwise uneventful recovery.<\/jats:p>","DOI":"10.1177\/0310057x0803600217","type":"journal-article","created":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T23:07:15Z","timestamp":1548198435000},"page":"254-256","source":"Crossref","is-referenced-by-count":11,"title":["Anaesthetic Implications of Hyperekplexia\u2014'Startle Disease\u2019"],"prefix":"10.1177","volume":"36","author":[{"given":"R.","family":"Garg","sequence":"first","affiliation":[{"name":"Department of Anaesthesia, All India Institute of Medical Sciences, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ramachandran","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia, All India Institute of Medical Sciences, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia, All India Institute of Medical Sciences, Delhi, India"},{"name":"Department of Opthalmology, Dr Rajendra Prasad Centre of Ophthalmologic Sciences."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2008,3,1]]},"reference":[{"key":"bibr1-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.1958.tb03533.x"},{"key":"bibr2-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(66)90047-5"},{"key":"bibr3-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91226-9"},{"key":"bibr4-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70470-7"},{"key":"bibr5-0310057X0803600217","first-page":"148","volume":"50","author":"Shahabi N.S.","year":"2003","journal-title":"Iranian Journal of Basic Medical Sciences"},{"key":"bibr6-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)00111-E"},{"key":"bibr7-0310057X0803600217","first-page":"125","volume":"7","author":"Lapunzina P.","year":"2003","journal-title":"Mol Diagn"},{"key":"bibr8-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(02)00095-5"},{"key":"bibr9-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4675-03.2004"},{"key":"bibr10-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20333"},{"key":"bibr11-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-198611000-00015"},{"key":"bibr12-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9592.2000.00573.x"},{"key":"bibr13-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1016\/S0749-0704(18)30042-3"},{"key":"bibr14-0310057X0803600217","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9592.2007.02326.x"}],"container-title":["Anaesthesia and Intensive Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0310057X0803600217","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0310057X0803600217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:06:56Z","timestamp":1777367216000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0310057X0803600217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1177\/0310057X0803600217"],"URL":"https:\/\/doi.org\/10.1177\/0310057x0803600217","relation":{},"ISSN":["0310-057X","1448-0271"],"issn-type":[{"value":"0310-057X","type":"print"},{"value":"1448-0271","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}