{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:05:46Z","timestamp":1747184746506,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH20FC1039"],"award-info":[{"award-number":["JPMH20FC1039"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non\u2010progressive or slowly progressive, as epilepsy is commonly controlled with appropriate antiseizure medication and individuals have a normal life expectancy. However, the myoclonus severity increases with age and leads to some degree of disability in the elderly. Because the non\u2010coding repeat expansions responsible for FAME are not detected by routine genetic tests being used at this time, a clinical diagnosis accompanied by neurophysiological testing remains essential to guide the geneticist on the selection of the specific genetic technique.<\/jats:p>","DOI":"10.1111\/epi.17595","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T13:55:06Z","timestamp":1680184506000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6653-3027","authenticated-orcid":false,"given":"Beatriz G.","family":"Giraldez","sequence":"first","affiliation":[{"name":"Epilepsy Unit and Laboratory of Neurology, Hospital Universitario and Instituto de Investigaci\u00f3n Sanitaria\u2010Fundaci\u00f3n Jim\u00e9nez D\u00edaz Aut\u00f3noma de Madrid University (IIS\u2010FJD, UAM)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 M.","family":"Serratosa","sequence":"additional","affiliation":[{"name":"Epilepsy Unit and Laboratory of Neurology, Hospital Universitario and Instituto de Investigaci\u00f3n Sanitaria\u2010Fundaci\u00f3n Jim\u00e9nez D\u00edaz Aut\u00f3noma de Madrid University (IIS\u2010FJD, UAM)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology Federico II University of Naples  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0790-2598","authenticated-orcid":false,"given":"Akio","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Epilepsy, Movement Disorders and Physiology Kyoto University Graduate School of Medicine  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"IRCCS Istituto \u2018Giannina Gaslini\u2019 member of ERN\u2010Epicare  Genoa Italy"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Child Health University of Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4845-4293","authenticated-orcid":false,"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology Federico II University of Naples  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,7]]},"reference":[{"key":"e_1_2_14_2_1","first-page":"281","article-title":"Familial adult myoclonic epilepsy (FAME)","volume":"95","author":"Uyama E","year":"2005","journal-title":"Adv Neurol"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.5152\/npa.2016.14841"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.434"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03017.x"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.07.014"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.584"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00346.x"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13303"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2009.05.014"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000055874.24000.4A"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00636.x"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.12.2459"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01198.x"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12216"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2015.12.038"},{"volume-title":"MedLink Neurology","year":"2022","author":"Striano P","key":"e_1_2_14_18_1"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.17595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T11:17:57Z","timestamp":1692530277000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.17595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,7]]},"references-count":17,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1111\/epi.17595"],"URL":"https:\/\/doi.org\/10.1111\/epi.17595","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"type":"print","value":"0013-9580"},{"type":"electronic","value":"1528-1167"}],"subject":[],"published":{"date-parts":[[2023,4,7]]},"assertion":[{"value":"2022-12-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}