{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T09:11:17Z","timestamp":1694941877338},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NIH)","award":["P01 NS097197"],"award-info":[{"award-number":["P01 NS097197"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2018,6]]},"abstract":"Summary<\/jats:title>Lafora disease (LD<\/jats:styled-content>) clinically appears in previously healthy teenagers as progressively worsening seizures, myoclonus, dementia, and ultimately a vegetative state leading to death within a decade of its onset. Here we present a typical case of LD<\/jats:styled-content> in which the patient survived until the age of 40. Although the patient's brain was severely affected, other organs remained functional until her death. The field of LD<\/jats:styled-content> research is approaching potentially curative therapies (eg, with antisense oligonucleotides or gene replacement) targeting only the central nervous system (CNS)<\/jats:styled-content>. Our case provides anecdotal evidence suggesting that a patient with typical LD<\/jats:styled-content> can retain full bodily health aside from the effects of neurological damage.<\/jats:p>","DOI":"10.1002\/epi4.12224","type":"journal-article","created":{"date-parts":[[2018,4,23]],"date-time":"2018-04-23T08:52:24Z","timestamp":1524473544000},"page":"295-298","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Extraneurological sparing in long\u2010lived typical Lafora disease"],"prefix":"10.1002","volume":"3","author":[{"given":"Danielle","family":"Goldsmith","sequence":"first","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Research Institute Toronto Ontario Canada"},{"name":"Institute of Medical Science University of Toronto Toronto Ontario Canada"},{"name":"Division of Neurology Department of Pediatrics University of Texas Southwestern Dallas Texas U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children Research Institute Toronto Ontario Canada"},{"name":"Institute of Medical Science University of Toronto Toronto Ontario Canada"},{"name":"Division of Neurology Department of Pediatrics University of Texas Southwestern Dallas Texas U.S.A"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1684\/epd.2016.0842","article-title":"Lafora disease","volume":"18","author":"Ackerley CA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002037"},{"key":"e_1_2_4_4_1","unstructured":"GrossmanTR AhonenS TurnbullJ et al. (Program #186).Presented at the 66th Annual Meeting of The American Society of Human Genetics October 19 2016 Vancouver Canada."},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0706"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.3.341"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2016.06.041"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00272.x"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2011.09.020"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2013.11.003"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00479.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2014.08.017"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000101"},{"key":"e_1_2_4_14_1","unstructured":"DanielsSK.Neurological disorders affecting oral pharyngeal swallowing. GI Motility online 2006;https:\/\/doi.org\/10.1038\/gimo34."}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fepi4.12224","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12224","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T07:29:22Z","timestamp":1694849362000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,17]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1002\/epi4.12224"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12224","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,17]]},"assertion":[{"value":"2018-04-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}