{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T21:58:54Z","timestamp":1781128734570,"version":"3.54.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T00:00:00Z","timestamp":1581379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2020.00010","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T05:59:10Z","timestamp":1581400750000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations"],"prefix":"10.3389","volume":"11","author":[{"given":"Annibale","family":"Antonioni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Peschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Granieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,2,11]]},"reference":[{"key":"B1","unstructured":"Hyperekplexia\n            TijssenMAJ\n            ReesMI\n          Seattle, WAUniversity of WashingtonGeneTests: Medical Genetics Information Resource [Database Online]2007"},{"key":"B2","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.clinph.2011.09.022","article-title":"Exaggerated startle reactions","volume":"123","author":"Dreissen","year":"2012","journal-title":"Clin Neurophysiol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"946","DOI":"10.33588\/rn.3910.2004497","article-title":"Function and dysfunction of the startle reaction in humans","volume":"39","author":"Valls-Sol\u00e9","year":"2004","journal-title":"Revista de Neurologia."},{"key":"B4","doi-asserted-by":"publisher","first-page":"e5510","DOI":"10.1093\/brain\/awy129","article-title":"Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus","volume":"141","author":"Sagie","year":"2018","journal-title":"Brain."},{"key":"B5","doi-asserted-by":"publisher","first-page":"167","DOI":"10.3389\/fnmol.2018.00167","article-title":"Functional consequences of the postnatal switch from neonatal to mutant adult glycine receptor \u03b11 subunits in the shaky mouse model of startle disease","volume":"11","author":"Schaefer","year":"2018","journal-title":"Front Mol Neurosci."},{"key":"B6","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1111\/ejn.14533","article-title":"The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia","volume":"170","author":"Kitzenmaier","year":"2019","journal-title":"Eur J Neurosci"},{"key":"B7","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1016\/j.isci.2019.08.018","article-title":"Human hyperekplexic mutations in glycine receptors disinhibit the brainstem by hijacking GABAA receptors","volume":"19","author":"Zou","year":"2019","journal-title":"Science."},{"key":"B8","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/s13064-018-0109-6","article-title":"Assembly and maintenance of GABAergic and Glycinergic circuits in the mammalian nervous system","volume":"13","author":"Gamlin","year":"2018","journal-title":"Neural Dev"},{"key":"B9","first-page":"86","article-title":"Congenital hyperekplexia as a cause of neonatal hypertonia","volume":"25","author":"Lobera","year":"1997","journal-title":"Rev Neurol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"53","DOI":"10.14802\/jmd.16044","article-title":"Familiar hyperekplexia, a potential cause of cautious gait: a new korean case and a systematic review of phenotypes","volume":"10","author":"Lee","year":"2017","journal-title":"J Mov Disord"},{"key":"B11","unstructured":"Hyperekplexia: a forgotten diagnosis clinched by next-generation sequencing10657\n            LallarM\n            SrivastavaA\n            PhadkeSR\n          10.4103\/neuroindia.NI_851_1628879899Neurol India.652017"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1900","DOI":"10.1002\/acn3.50866","article-title":"Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder","volume":"6","author":"Lopez","year":"2019","journal-title":"Ann Clin Transl Neurol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1111\/dmcn.12617","article-title":"Clinical and genetic investigation of 17 Japanese patients with hyperekplexia","volume":"57","author":"Mine","year":"2015","journal-title":"Dev Med Child Neurol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"491","DOI":"10.33588\/rn.6712.2018067","article-title":"Pathophysiology of the glutamate and the glycine transporters: new therapeutic targets","volume":"67","author":"Gimenez","year":"2018","journal-title":"Rev Neurol"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.00010\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T05:59:13Z","timestamp":1581400753000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fneur.2020.00010\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,11]]},"references-count":14,"alternative-id":["10.3389\/fneur.2020.00010"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2020.00010","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,11]]},"article-number":"10"}}