{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T08:46:18Z","timestamp":1725612378048},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T00:00:00Z","timestamp":1535500800000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life\u2010threatening apnoea. We report a novel case of concomitant <jats:italic>GLRA1<\/jats:italic>\u2010related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole\u2010exome sequencing revealed hyperekplexia\u2010related <jats:italic>GLRA1<\/jats:italic> mutation. The boy eventually developed spells induced by noise and surprise. All his spells remitted upon treatment with clonazepam. Paediatricians and paediatric neurologists should be aware of this possible mixed presentation in order to appropriately tailor medication regimens and treatment goals. [<jats:italic>Published with video sequence on<\/jats:italic> <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.epilepticdisorders.com\">www.epilepticdisorders.com<\/jats:ext-link>].<\/jats:p>","DOI":"10.1684\/epd.2018.0986","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"279-282","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A child with hyperekplexia and epileptic myoclonus"],"prefix":"10.1002","volume":"20","author":[{"given":"Lara","family":"Wadi","sequence":"first","affiliation":[{"name":"Faculty of Medicine, American University of Beirut, Beirut"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasser","family":"Medlej","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Cell biology and Physiological Sciences, American University of Beirut, Beirut"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makram","family":"Obeid","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Cell biology and Physiological Sciences, American University of Beirut, Beirut"},{"name":"Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1996.tb12144.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.08.013"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2013.04.003"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03709.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2011.09.022"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1184-04.2004"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2008.06.005"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.12.001"},{"key":"e_1_2_6_10_1","first-page":"13","article-title":"Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects","volume":"42","author":"Kure S.","year":"1997","journal-title":"J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190070801"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813516677"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700216"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-8467(97)00022-X"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2018.0986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:11:22Z","timestamp":1710778282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2018.0986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1684\/epd.2018.0986"],"URL":"https:\/\/doi.org\/10.1684\/epd.2018.0986","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8]]},"assertion":[{"value":"2017-10-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}