{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:22:01Z","timestamp":1792513321845,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T00:00:00Z","timestamp":1606176000000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus and generalized or focal seizures. A recently described novel <jats:italic>KCNC1<\/jats:italic> mutation is associated with a specific phenotype of progressive myoclonic epilepsy, which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). Our case illustrates a typical presentation of this disease and the potential for misdiagnosis as idiopathic generalized epilepsy during the early phase of the disease. Unique findings that may suggest an alternative diagnosis are a progressive myoclonus, prominent ataxia\/dysmetria on examination, and abnormally high amplitude in the sensory evoked potential recording. We also report a brief review of the existing literature on MEAK. Early and accurate diagnosis with genetic testing may significantly help in counseling patients and families.<\/jats:p>","DOI":"10.1684\/epd.2020.1197","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T12:21:17Z","timestamp":1604492477000},"page":"654-658","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to <i>KCNC1<\/i> mutation (MEAK): a case report and review of the literature"],"prefix":"10.1002","volume":"22","author":[{"given":"Niravkumar","family":"Barot","sequence":"first","affiliation":[{"name":"University of Pittsburgh, Neurology  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Margiotta","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University, Department of Neurology Jefferson Comprehensive Epilepsy Center  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maromi","family":"Nei","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University, Department of Neurology Jefferson Comprehensive Epilepsy Center  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Skidmore","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University, Department of Neurology Jefferson Comprehensive Epilepsy Center  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0835"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50822"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2019.106191"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13662"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.01.006"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0953-816X.2004.03385.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejphar.2018.06.015"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0859"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24929"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.3"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1075"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.1.225"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2020.1197","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:32:50Z","timestamp":1710779570000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2020.1197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1684\/epd.2020.1197"],"URL":"https:\/\/doi.org\/10.1684\/epd.2020.1197","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"2020-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}