{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T03:04:48Z","timestamp":1774407888167,"version":"3.50.1"},"reference-count":54,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T00:00:00Z","timestamp":1675987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1196637"],"award-info":[{"award-number":["APP1196637"]}],"id":[{"id":"10.13039\/501100000925","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\/benign adult familial myoclonic epilepsy (FAME\/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. Initially, it was likely conflated with other familial myoclonus epilepsies, especially the progressive myoclonus epilepsies. As the progressive myoclonus epilepsies became better understood clinically and genetically, this group began to stand out and was first recognized as such in Japan. Subsequently, families were recognized around the world and there was debate as to whether they represented one or multiple disorders. Clarification came with the identification of pentanucleotide repeats in Japanese families, and FAME\/BAFME was quickly shown to be due to pentanucleotide expansions in at least six genes. These have geographic predilections and appear to have been caused by historically ancient initial mutations. Within and between families, there is some variation in the phenotype, explained in large part by expansion size, but whether there are features specific to individual genes remains uncertain.<\/jats:p>","DOI":"10.1111\/epi.17519","type":"journal-article","created":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T05:59:42Z","timestamp":1674885582000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["History of familial adult myoclonus epilepsy\/benign adult familial myoclonic epilepsy around the world"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"first","affiliation":[{"name":"Department of Medicine, Epilepsy Research Centre University of Melbourne  Heidelberg Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Giannina Gaslini Institute, Scientific Institute for Research and Health Care  Genoa Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Tokyo Hospital  Tokyo Japan"},{"name":"Institute of Medical Genomics International University of Health and Welfare  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,2,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.434"},{"key":"e_1_2_7_3_1","first-page":"1","article-title":"Benign adult familial myoclonic epilepsy (BAFME)","volume":"17","author":"Yasuda T","year":"1991","journal-title":"Kawasaki Med J"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.584"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20413"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0067-2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01915725"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0834"},{"key":"e_1_2_7_9_1","first-page":"1","volume-title":"Die myoclonie","author":"Unverricht H","year":"1891"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01833165"},{"key":"e_1_2_7_11_1","first-page":"1","volume-title":"Die progressive myoclonus\u2010epilepsie (Unverricht's Myoklonie)","author":"Lundborg H","year":"1903"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.86.5.827"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/78.3.325"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198607313150506"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280129"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1966.00470180027003"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/90.3.669"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"},{"issue":"5","key":"e_1_2_7_19_1","first-page":"437","article-title":"ZurGenetik der progressivenMyoklonusepilepsien (Unverricht\u2010Lundborg) [On genetics of progressive myoclonic epilepsies (Unverricht\u2010Lundborg)]","volume":"1","author":"Vogel F","year":"1965","journal-title":"Humangenetik"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00342877"},{"key":"e_1_2_7_21_1","first-page":"700","volume-title":"Handbook of clinical neurology","author":"Vogel F","year":"1981"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02866101"},{"key":"e_1_2_7_23_1","first-page":"285","article-title":"Epilepsiemyoclonie progressive familiale, d'h\u00e9r\u00e9dit\u00e9dominante: \u00e9tude clinique et biologiqued'unefamille [Familial progressive myoclonus epilepsy, of a dominant heredity: clinical and biological study of a family]","volume":"56","author":"Castaigne P","year":"1967","journal-title":"Enc\u00e9phale"},{"key":"e_1_2_7_24_1","first-page":"1","article-title":"A family with heredofamilial tremor associated with epileptic disorders","volume":"77","author":"Wakeno M","year":"1975","journal-title":"Seishin Shinkeigaku Zasshi"},{"key":"e_1_2_7_25_1","first-page":"1","article-title":"Seven families with heredofamilial tremor and epilepsy","volume":"24","author":"Kudo J","year":"1984","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_7_26_1","first-page":"1","article-title":"A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy \u2013 the nosological place of familial essential myoclonus and epilepsy (FEME)","volume":"92","author":"Inazuki G","year":"1990","journal-title":"Seishin Shinkeigaku Zasshi"},{"key":"e_1_2_7_27_1","first-page":"1173","article-title":"A 77\u2010year\u2010old woman with myoclonus and epilepsy","volume":"45","author":"Yokochi M","year":"1993","journal-title":"No To Shinkei"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.8.798"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.1.80"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-14"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/302535"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.6.1180"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.12.1569"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1053\/seiz.2000.0402"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.12.2459"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.6.941"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0729-x"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000055874.24000.4A"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.39903.x"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20558"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03349.x"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e396a8"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.133"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1700-8"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12671-y"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12763-9"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz267"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy160"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105484"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0606-z"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa214"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00729-1"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2020.05.029"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.17519","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/epi.17519","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.17519","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T11:17:46Z","timestamp":1692530266000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.17519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,10]]},"references-count":54,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1111\/epi.17519"],"URL":"https:\/\/doi.org\/10.1111\/epi.17519","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,10]]},"assertion":[{"value":"2023-01-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}