{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:40:32Z","timestamp":1780422032039,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,30]],"date-time":"2014-09-30T00:00:00Z","timestamp":1412035200000},"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":[[2014,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (<jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content>) to identify distinguishing features of those with a slowly progressive course. Twenty\u2010three patients with <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> (17 female; 6 male) were recruited. Mean age (\u00b1 SD) at the disease onset was 14.5\u00a0\u00b1\u00a03.9\u00a0years and mean follow\u2010up duration was 13.2\u00a0\u00b1\u00a08.0\u00a0years. <jats:italic><jats:styled-content style=\"fixed-case\">NHLRC<\/jats:styled-content>1<\/jats:italic> mutations were detected in 18 patients; <jats:italic><jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>2A<\/jats:italic> mutations were identified in 5. Patients who maintained &gt;10\u00a0years gait autonomy were labeled as \u201cmild\u201d and were compared with the remaining <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> patients with a typical course. Six of 23 patients were mild and presented significantly delay in the age at onset, lower neurologic disability score at 4\u00a0years after the onset, less severe seizure phenotype, lower probability of showing both photoparoxysmal response on electroencephalography (<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>) and giant somatosensory evoked potentials, as compared to patients with typical <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content>. However, in both mild and typical <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> patients, <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> showed disorganization of background activity and frequent epileptiform abnormalities. Mild <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> patients had <jats:italic><jats:styled-content style=\"fixed-case\">NHLRC<\/jats:styled-content>1<\/jats:italic> mutations and five of six carried homozygous or compound heterozygous <jats:italic>D146N<\/jats:italic> mutation. This mutation was found in none of the patients with typical <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content>. The occurrence of specific <jats:italic><jats:styled-content style=\"fixed-case\">NHLRC<\/jats:styled-content>1<\/jats:italic> mutations in patients with mild <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> should be taken into account in clinical practice for appropriate management and counseling.<\/jats:p>","DOI":"10.1111\/epi.12806","type":"journal-article","created":{"date-parts":[[2014,9,30]],"date-time":"2014-09-30T21:52:15Z","timestamp":1412113935000},"source":"Crossref","is-referenced-by-count":37,"title":["Mild <scp>L<\/scp>afora disease: Clinical, neurophysiologic, and genetic findings"],"prefix":"10.1111","volume":"55","author":[{"given":"Edoardo","family":"Ferlazzo","sequence":"first","affiliation":[{"name":"Magna Gr\u00e6cia University of Catanzaro Catanzaro Italy"},{"name":"Regional Epilepsy Center Bianchi\u2010Melacrino\u2010Morelli Hospital Reggio Calabria Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Canafoglia","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation Carlo Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Michelucci","sequence":"additional","affiliation":[{"name":"IRCCS \u2010 Institute of Neurological Sciences of Bologna Unit of Neurology Bellaria Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Gambardella","sequence":"additional","affiliation":[{"name":"Magna Gr\u00e6cia University of Catanzaro Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Gennaro","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics Galliera Hospital Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pasini","sequence":"additional","affiliation":[{"name":"IRCCS \u2010 Institute of Neurological Sciences of Bologna Unit of Neurology Bellaria Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Riguzzi","sequence":"additional","affiliation":[{"name":"IRCCS \u2010 Institute of Neurological Sciences of Bologna Unit of Neurology Bellaria Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaria","family":"Plasmati","sequence":"additional","affiliation":[{"name":"IRCCS \u2010 Institute of Neurological Sciences of Bologna Unit of Neurology Bellaria Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Volpi","sequence":"additional","affiliation":[{"name":"IRCCS \u2010 Institute of Neurological Sciences of Bologna Unit of Neurology Bellaria Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Labate","sequence":"additional","affiliation":[{"name":"Magna Gr\u00e6cia University of Catanzaro Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Magna Gr\u00e6cia University of Catanzaro Catanzaro Italy"},{"name":"Regional Epilepsy Center Bianchi\u2010Melacrino\u2010Morelli Hospital Reggio Calabria Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavio","family":"Villani","sequence":"additional","affiliation":[{"name":"Division of Clinical Epileptology IRCCS Foundation Carlo Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Casazza","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation Carlo Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Viri","sequence":"additional","affiliation":[{"name":"Epilepsy Center Fatebenefratelli and Ophthalmic Hospital Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics Department of Neuroscience Institute G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Neurology) Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Turnbull","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Neurology) Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Serratosa","sequence":"additional","affiliation":[{"name":"Department of Neurology Biomedical Network Research Center on Rare Diseases (CIBERER) IIS\u2010Jim\u00e9nez D\u00edaz Foundation Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Guerrero\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Neurology Biomedical Network Research Center on Rare Diseases (CIBERER) IIS\u2010Jim\u00e9nez D\u00edaz Foundation Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Franceschetti","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Center IRCCS Foundation Carlo Besta Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Aguglia","sequence":"additional","affiliation":[{"name":"Magna Gr\u00e6cia University of Catanzaro Catanzaro Italy"},{"name":"Regional Epilepsy Center Bianchi\u2010Melacrino\u2010Morelli Hospital Reggio Calabria Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00479.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000077"},{"key":"e_1_2_6_4_1","first-page":"382","volume-title":"Handbook of clinical neurology","author":"Van Heycop Ten Ham MV","year":"1974"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1983.tb04881.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/155005948501600312"},{"key":"e_1_2_6_7_1","volume-title":"Jasper's Basic Mechanisms of the Epilepsies","author":"Serratosa JM","year":"2012"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0370-4475(78)80126-9"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000154519.10805.F7"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02692.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00272.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2013.11.003"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021294"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.01.007"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20954"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000096017.19978.CB"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.12806","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.12806","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T02:46:34Z","timestamp":1696301194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.12806"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,30]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/epi.12806"],"URL":"https:\/\/doi.org\/10.1111\/epi.12806","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,30]]}}}