{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T06:41:33Z","timestamp":1725345693095},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T00:00:00Z","timestamp":1412726400000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic\u2010clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in <jats:italic>GLRA1<\/jats:italic> resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of <jats:italic>GLRA1<\/jats:italic>\u2010mediated hyperekplexia. [<jats:italic>Published with video sequences<\/jats:italic>]<\/jats:p>","DOI":"10.1684\/epd.2014.0663","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"354-357","source":"Crossref","is-referenced-by-count":3,"title":["Neonatal hyperekplexia with homozygous p.R392H mutation in <i>GLRA1<\/i>"],"prefix":"10.1002","volume":"16","author":[{"given":"Fouzia","family":"Hmami","sequence":"first","affiliation":[{"name":"Neonatology and Neonatal Resuscitation unit"},{"name":"Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian\u2010Elin","family":"Wood","sequence":"additional","affiliation":[{"name":"Neurology and Molecular Neuroscience Research Group"},{"name":"Wales Epilepsy Research Network, College of Medicine Swansea University  Swansea UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sana","family":"Chaouki","sequence":"additional","affiliation":[{"name":"Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez"},{"name":"Pediatric Department (Neurophysiological exploration unit) CHU HASSAN II  Fez Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdellah","family":"Oulmaati","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Resuscitation unit"},{"name":"Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustapha","family":"Hida","sequence":"additional","affiliation":[{"name":"Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez"},{"name":"Pediatric Department (Neurophysiological exploration unit) CHU HASSAN II  Fez Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark I.","family":"Rees","sequence":"additional","affiliation":[{"name":"Neurology and Molecular Neuroscience Research Group"},{"name":"Wales Epilepsy Research Network, College of Medicine Swansea University  Swansea UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seo\u2010Kyung","family":"Chung","sequence":"additional","affiliation":[{"name":"Neurology and Molecular Neuroscience Research Group"},{"name":"Wales Epilepsy Research Network, College of Medicine Swansea University  Swansea UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelhak","family":"Bouharrou","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Resuscitation unit"},{"name":"Sidi Mohammed Ben Abdellah University, Faculty of Medicine and Pharmacy, Fez"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.372094"},{"key":"e_1_2_6_3_1","first-page":"20","article-title":"Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case","volume":"48","author":"Chen CH","year":"2007","journal-title":"Acta Paediatr Taiwan"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1763-10.2010"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds498"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2008.06.005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/02724939992185"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.2002.02054.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2175"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1814"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2003.12.007"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1991.tb11785.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-351"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt207"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91226-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2009.06372.x"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2014.0663","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:05:31Z","timestamp":1710777931000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2014.0663"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1684\/epd.2014.0663"],"URL":"https:\/\/doi.org\/10.1684\/epd.2014.0663","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9]]}}}