{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:08:18Z","timestamp":1758474498698},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic\u2010clonic seizures at the age of 30 is discussed. Until the age of 48, the patient did not have myoclonic jerks or ataxia clinically, but had well controlled seizures. He developed dementia and late extrapyramidal signs. Axillary skin biopsy revealed typical Lafora inclusion bodies. Genetic analysis showed a mutation in the <jats:italic>EMP2B<\/jats:italic> gene. To our knowledge, this is the first description of a patient suffering from a Lafora disease without disabling myoclonus and ataxia but rather rare seizures, extrapyramidal signs, and dementia.<\/jats:p>","DOI":"10.1684\/epd.2012.0489","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:19Z","timestamp":1564752259000},"page":"94-98","source":"Crossref","is-referenced-by-count":5,"title":["Presentation of an unusual patient with Lafora disease"],"prefix":"10.1002","volume":"14","author":[{"given":"Selim","family":"G\u00f6kdemir","sequence":"first","affiliation":[{"name":"Division of Neurology Istanbul University \u00c7errahpasa Medical Faculty Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hande","family":"\u00c7a\u011flayan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Molecular Biology Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"K\u0131z\u0131ltan","sequence":"additional","affiliation":[{"name":"Division of Neurology Istanbul University \u00c7errahpasa Medical Faculty Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naci","family":"Karaa\u011fac","sequence":"additional","affiliation":[{"name":"Division of Neurology Istanbul University \u00c7errahpasa Medical Faculty Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cem","family":"Leblebici","sequence":"additional","affiliation":[{"name":"Division of Pathology Samatya Educational and Research Hospital Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S Naz","family":"Yeni","sequence":"additional","affiliation":[{"name":"Division of Neurology Istanbul University \u00c7errahpasa Medical Faculty Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,3]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00272.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1263"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021294"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.6.1246"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02692.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00276-9"},{"key":"e_1_2_4_8_1","first-page":"199","article-title":"Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease","volume":"89","author":"Minassian BA","year":"2002","journal-title":"Adv Neurol"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050288"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.1_Part_1.186"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00711.x"},{"key":"e_1_2_4_12_1","first-page":"103","article-title":"Physiology of negative myoclonus","volume":"89","author":"Shibasaki H","year":"2002","journal-title":"Adv Neurol"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20954"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2009.00308.x"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2012.0489","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:21:21Z","timestamp":1710778881000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2012.0489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1684\/epd.2012.0489"],"URL":"https:\/\/doi.org\/10.1684\/epd.2012.0489","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3]]}}}