{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:12:54Z","timestamp":1740136374130,"version":"3.37.3"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100010909","name":"Young Scientists Fund","doi-asserted-by":"publisher","award":["81701182"],"award-info":[{"award-number":["81701182"]}],"id":[{"id":"10.13039\/501100010909","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002767","name":"Hunan Provincial Science and Technology Department","doi-asserted-by":"publisher","award":["2019SK1012"],"award-info":[{"award-number":["2019SK1012"]}],"id":[{"id":"10.13039\/501100002767","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1007\/s10072-020-04377-7","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T01:02:22Z","timestamp":1588035742000},"page":"2267-2270","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease"],"prefix":"10.1007","volume":"41","author":[{"given":"Yujiao","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaojun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxin","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaosu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxia","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyu","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"4377_CR1","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1038\/s41582-018-0057-0","volume":"14","author":"F Nitschke","year":"2018","unstructured":"Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA (2018) Lafora disease - from pathogenesis to treatment strategies. Nat Rev Neurol 14:606\u2013617","journal-title":"Nat Rev Neurol"},{"key":"4377_CR2","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1684\/epd.2016.0842","volume":"18","author":"J Turnbull","year":"2016","unstructured":"Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley C (2016) Lafora disease. Epileptic Disord 18:38\u201362","journal-title":"Epileptic Disord"},{"key":"4377_CR3","doi-asserted-by":"publisher","first-page":"7117","DOI":"10.1074\/jbc.R117.803064","volume":"293","author":"MS Gentry","year":"2018","unstructured":"Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM (2018) Lafora disease offers a unique window into neuronal glycogen metabolism. J Biol Chem 293:7117\u20137125","journal-title":"J Biol Chem"},{"key":"4377_CR4","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/j.cmet.2019.07.002","volume":"30","author":"MK Brewer","year":"2019","unstructured":"Brewer MK, Uittenbogaard A, Austin G, Segvich DM, Depaaoli-Roach A (2019) Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion. Cell Metab 30:689\u2013705.e6","journal-title":"Cell Metab"},{"key":"4377_CR5","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.seizure.2019.08.012","volume":"71","author":"A Orsini","year":"2019","unstructured":"Orsini A, Valetto A, Bertini V, Esposito M, Caarli N (2019) The best evidence for progressive myoclonic epilepsy: a pathway to precision therapy. Seizure 71:247\u2013257","journal-title":"Seizure"},{"key":"4377_CR6","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1684\/epd.2017.0892","volume":"19","author":"MA Mikati","year":"2017","unstructured":"Mikati MA, Tabbara F (2017) Managing Lafora body disease with vagal nerve stimulation. Epileptic Disord 19:82\u201386","journal-title":"Epileptic Disord"},{"key":"4377_CR7","doi-asserted-by":"publisher","first-page":"906","DOI":"10.15252\/emmm.201707608","volume":"9","author":"F Nitschke","year":"2017","unstructured":"Nitschke F, Sullivan M, Wang P, Zhao X, Chown E, Perri AM, Israelian L, Juana-L\u00f3pez L, Bovolenta P, Rodr\u00edguez de C\u00f3rdoba S, Steup M, Minassian BA (2017) Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. EMBO Mol Med 9:906\u2013917","journal-title":"EMBO Mol Med"},{"key":"4377_CR8","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.seizure.2019.03.012","volume":"67","author":"SK Tee","year":"2019","unstructured":"Tee SK, Omg TL, Aris A, See SML, Leong HY, Khalid MKN et al (2019) Lafora disease in a Malaysian with a rare mutation in the EPM2A gene. Seizure 67:78\u201381","journal-title":"Seizure"},{"key":"4377_CR9","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.eplepsyres.2018.07.003","volume":"145","author":"MA Garcia-Gimeno","year":"2018","unstructured":"Garcia-Gimeno MA, Rodilla-Ramirez PN, Viana R, Salas-Puig X, Brewer MK, Gentry MS, Sanz P (2018) A novel EPM2A mutation yields a slow progression form of Lafora disease. Epilepsy Res 145:169\u2013177","journal-title":"Epilepsy Res"},{"issue":"12","key":"4377_CR10","doi-asserted-by":"publisher","first-page":"1137","DOI":"10.1080\/17474124.2019.1691527","volume":"13","author":"JD Herlihy","year":"2019","unstructured":"Herlihy JD, Reddy S, Shanker A, McCallum R (2019) Cyclic vomiting syndrome: an overview for clinicians. Expert Rev Gastroenterol Hepatol 13(12):1137\u20131143","journal-title":"Expert Rev Gastroenterol Hepatol"},{"issue":"2","key":"4377_CR11","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/s10286-019-00596-x","volume":"29","author":"C Baumgartner","year":"2019","unstructured":"Baumgartner C, Koren J, Britto-Arias M, Schmidt S, Pirker S (2019) Epidemiology and pathophysiology of autonomic seizures: a systematic review. Clin Auton Res 29(2):137\u2013150","journal-title":"Clin Auton Res"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-020-04377-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-020-04377-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-020-04377-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:14:40Z","timestamp":1619568880000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-020-04377-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,28]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["4377"],"URL":"https:\/\/doi.org\/10.1007\/s10072-020-04377-7","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2020,4,28]]},"assertion":[{"value":"18 November 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All adult subjects gave written informed consent for the publication of this case report. And written informed consent of underage subject was obtained from the parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}