{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:40:55Z","timestamp":1781613655622,"version":"3.54.5"},"reference-count":22,"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><jats:italic>SCN8A<\/jats:italic> encephalopathy is a newly defined epileptic encephalopathy caused by <jats:italic>de novo<\/jats:italic> mutations of the <jats:italic>SCN8A<\/jats:italic> gene. We report herein a four\u2010year\u2010old boy presenting with severe non\u2010epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a <jats:italic>de novo<\/jats:italic> heterozygous missense mutation of <jats:italic>SCN8A<\/jats:italic>. This case shows that paroxysmal non\u2010epileptic episodes of severe tremor and hyperekplexia\u2010like startles and a striking vegetative component can be the first early symptoms of severe <jats:italic>SCN8A<\/jats:italic> developmental and epileptic encephalopathy. Clinicians should be aware of these symptoms in order to avoid misdiagnosis and ensure early appropriate therapeutic management. [<jats:italic>Published with video sequences 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.2018.0988","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"289-294","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Neonatal tremor episodes and hyperekplexia\u2010like presentation at onset in a child with <i>SCN8A<\/i> developmental and epileptic encephalopathy"],"prefix":"10.1002","volume":"20","author":[{"given":"Linda","family":"Pons","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de Cytog\u00e9n\u00e9tique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon"},{"name":"Lyon Neuroscience Research Centre (CRNL), GENDEV team, CNRS UMR 5292, INSERM U1028, UCBL1"},{"name":"Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares (CReER)Maladies, HFME\u2010HCL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00ebtan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de Cytog\u00e9n\u00e9tique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon"},{"name":"Lyon Neuroscience Research Centre (CRNL), GENDEV team, CNRS UMR 5292, INSERM U1028, UCBL1"},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Lyon"},{"name":"Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares (CReER)Maladies, HFME\u2010HCL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de Cytog\u00e9n\u00e9tique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon"},{"name":"Lyon Neuroscience Research Centre (CRNL), GENDEV team, CNRS UMR 5292, INSERM U1028, UCBL1"},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Lyon"},{"name":"Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares (CReER)Maladies, HFME\u2010HCL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chatron","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de Cytog\u00e9n\u00e9tique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon"},{"name":"Lyon Neuroscience Research Centre (CRNL), GENDEV team, CNRS UMR 5292, INSERM U1028, UCBL1"},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Lyon"},{"name":"Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares (CReER)Maladies, HFME\u2010HCL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de Cytog\u00e9n\u00e9tique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon"},{"name":"Centre de R\u00e9f\u00e9rence des \u00c9pilepsies Rares (CReER)Maladies, HFME\u2010HCL Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Manel","sequence":"additional","affiliation":[{"name":"Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, HFME, University Hospitals of Lyon (HCL), Member of the European Reference Network EPICARE, Lyon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Arzimanoglou","sequence":"additional","affiliation":[{"name":"Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, HFME, University Hospitals of Lyon (HCL), Member of the European Reference Network EPICARE, Lyon"},{"name":"Lyon Neuroscience Research Centre (CRNL), DYCOG team, INSERM U1028; 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