{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:54:53Z","timestamp":1782258893176,"version":"3.54.5"},"reference-count":49,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement published in the wake of the Marseille PME workshop in 1989 (Marseille Consensus Group, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#epd2834-bib-0024\"\/>). This consensus helped define the various types of PME known at the time and set the agenda for a new era of genetic research which soon lead to the discovery of many PME genes. Prior to the Marseille meeting, and before the molecular era, there had been much confusion and controversy. Because investigators had but limited and biased experience with these rare disorders due to the uneven, skewed distribution of PMEs around the world, opinions and nosologies were based on local expertise which did not match well with the experiences of other researchers and clinicians. The three major areas of focus included: (1) the nature and limits of the concept of PME in varying scopes, which was greatly debated; (2) the description of discrete clinical entities by clinicians; and (3) the description of markers (pathological, biological, neurophysiological, <jats:italic>etc<\/jats:italic>.) which could lead to a precise diagnosis of a given PME type, with, in the best cases, a reliable correlation with clinical findings. In this article, we shall also examine the breakthroughs achieved in the wake of the 1989 Marseille meeting and recent history in the field, following the identification of several PME genes. As in other domains, the molecular and genetic approach has challenged some established concepts and has led to the description of new PME types. However, as may already be noted, this approach has also confirmed the existence of the major, established types of PME, which can now be considered as true diseases.<\/jats:p>","DOI":"10.1684\/epd.2016.0834","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":22,"title":["The history of progressive myoclonus epilepsies"],"prefix":"10.1002","volume":"18","author":[{"given":"Pierre","family":"Genton","sequence":"first","affiliation":[{"name":"Centre Saint\u2010Paul \u2010 Hospital Henri\u2010Gastaut  300 Bd De Sainte Marguerite 13009 Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa, \u201cG. Gaslini\u201d Institute  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children and University of Toronto  555 University Avenue Toronto Ontario M5G 1X8 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870040104"},{"key":"e_1_2_4_3_1","volume-title":"Myoclonus. 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