{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T12:44:27Z","timestamp":1781700267718,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic\u2010clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in <jats:italic>CERS1<\/jats:italic>, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18\u2010ceramides. The mutation decreased C18\u2010ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.<\/jats:p>","DOI":"10.1684\/epd.2016.0857","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":12,"title":["Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis"],"prefix":"10.1002","volume":"18","author":[{"given":"Edoardo","family":"Ferlazzo","sequence":"first","affiliation":[{"name":"Regional Epilepsy Center, Reggio Calabria, Italy; Department of Medical and Surgical Sciences Magna Graecia University  Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, \u2018G. Gaslini\u2019 Institute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Italiano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Calarese","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Psychiatry University of Messina  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Regional Epilepsy Center, Reggio Calabria, Italy; Department of Medical and Surgical Sciences Magna Graecia University  Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Vanni","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, \u2018G. Gaslini\u2019 Institute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floriana","family":"Fruscione","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, \u2018G. Gaslini\u2019 Institute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[{"name":"H\u00f4pital Henri\u2010Gastaut  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, \u2018G. Gaslini\u2019 Institute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.10.006"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22489"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000077"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"issue":"2","key":"e_1_2_5_6_1","first-page":"S1\u2010158","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.28"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24170"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:09:54Z","timestamp":1710778194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":8,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0857"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0857","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}