{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:30:09Z","timestamp":1790713809791,"version":"4.1.0"},"reference-count":5,"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><jats:italic>GOSR2<\/jats:italic>\u2010associated PME is associated with a homozygous mutation in GOSR2 (c.430G&gt;T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the <jats:italic>GOSR2<\/jats:italic> protein to localize to the cis\u2010Golgi. The main clinical features of the GOSR2\u2010associated PME are early\u2010onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. <jats:italic>GOSR2<\/jats:italic>\u2010associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.<\/jats:p>","DOI":"10.1684\/epd.2016.0848","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":23,"title":["<i>GOSR2<\/i>: a progressive myoclonus epilepsy gene"],"prefix":"10.1002","volume":"18","author":[{"given":"Leanne M.","family":"Dibbens","sequence":"first","affiliation":[{"name":"Epilepsy Research Group, School of Pharmacy and Medical Sciences University of South Australia, and Sansom Institute for Health Research  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Filadelfia\/University of Copenhagen  Dianalund Denmark"},{"name":"IRCCS, Institute of Neurological Sciences, Bellaria Hospital  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt021"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.011"},{"issue":"2","key":"e_1_2_7_4_1","first-page":"S1","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12190"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25704"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0848","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:11:12Z","timestamp":1710778272000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0848"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":5,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0848"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0848","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]]}}}