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A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (<jats:italic>Epileptic Disord<\/jats:italic>. 2019;<jats:bold>21<\/jats:bold>:129).<\/jats:p>","DOI":"10.1002\/epd2.20152","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T15:49:58Z","timestamp":1692892198000},"page":"670-680","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["ILAE Genetics Literacy series: Progressive myoclonus epilepsies"],"prefix":"10.1002","volume":"25","author":[{"given":"Jillian M.","family":"Cameron","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne Austin Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2152-8106","authenticated-orcid":false,"given":"Colin A.","family":"Ellis","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne Austin Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the ILAE Genetics Commission","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the ILAE Genetic Literacy Task Force","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2019.1039"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280129"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17547"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010911"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24929"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.013"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000641"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/386847a0"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-298"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001466"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01422.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000323470"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03718.x"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2009.01.001"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2021.108157"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20954"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00272.x"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000154519.10805.F7"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/2470"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000133215.65836.03"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M708712200"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1998"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2015.10.030"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0057-0"},{"issue":"2","key":"e_1_2_10_30_1","first-page":"115","article-title":"Early diagnosis of Lafora disease. 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