{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:27:31Z","timestamp":1791224851037,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T00:00:00Z","timestamp":1398729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    We detail the phenotype of a novel form of neuronal ceroid lipofuscinosis due to a homozygous progranulin gene mutation (c.813_816del;\n                    <jats:styled-content style=\"fixed-case\">CLN<\/jats:styled-content>\n                    11\n                    <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content>\n                    #614706). The symptoms appeared in two young adult siblings, and included progressive retinopathy, recurrent generalized seizures, moderate ataxia, and subtle cognitive dysfunction. Long\u2010lasting episodes of palinopsia were a recurring symptom and associated with polyphasic visual\u2010evoked potential waveform that suggested hyperexcitability of the occipital cortex. Electroencephalography showed rare spike\u2010wave paroxysms, and magnetic resonance imaging revealed selective cerebellar atrophy. Skin biopsy revealed fingerprint storage and the absence of progranulin protein. Electron microscopy of peripheral blood leukocytes showed fingerprint profiles in 1\/100 lymphocytes. These findings define a novel phenotype and provide clues for better understanding of progranulin function.\n                  <\/jats:p>\n                  <jats:p>\n                    A PowerPoint slide summarizing this article is available for download in the Supporting Information section\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12632\/supinfo\">here<\/jats:ext-link>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/epi.12632","type":"journal-article","created":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T11:10:09Z","timestamp":1398769809000},"source":"Crossref","is-referenced-by-count":68,"title":["Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation"],"prefix":"10.1111","volume":"55","author":[{"given":"Laura","family":"Canafoglia","sequence":"first","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Morbin","sequence":"additional","affiliation":[{"name":"Neuropathology IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidmer","family":"Scaioli","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit Department of Clinical Neurosciences Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovico","family":"D'Incerti","sequence":"additional","affiliation":[{"name":"Neuroradiology IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Fugnanesi","sequence":"additional","affiliation":[{"name":"Neuropathology IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Tagliavini","sequence":"additional","affiliation":[{"name":"Neuropathology IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Department of Medicine Epilepsy Research Center University of Melbourne, Austin Health West Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation C. Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.10.161471"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(92)90032-T"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0891-x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102411410083"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.optm.2009.12.010"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2006.07.001"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.11.008"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2007.04968.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"69","DOI":"10.3233\/JAD-2012-121306","article-title":"Estimating the age of the most common Italian GRN mutation: walking back to canossa times","volume":"33","author":"Benussi L","year":"2013","journal-title":"J Alzheimers Dis"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12632","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T14:26:35Z","timestamp":1696343195000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,29]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1111\/epi.12632"],"URL":"https:\/\/doi.org\/10.1111\/epi.12632","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,29]]}}}