{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:18:46Z","timestamp":1772781526919,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,6]],"date-time":"2017-02-06T00:00:00Z","timestamp":1486339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French League Against Epilepsy"},{"name":"Janssen-Cilag Company"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Perampanel (<jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content>) was used in 12 patients with Unverricht\u2010Lundborg disease (<jats:styled-content style=\"fixed-case\">ULD<\/jats:styled-content>) to evaluate its efficacy against myoclonus and seizures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We treated 11 patients with <jats:italic><jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1<\/jats:italic> mutations (6 F, 5 M, aged 13\u201362 years) and a 43\u2010year\u2010old man with de novo <jats:italic><jats:styled-content style=\"fixed-case\">KCNC<\/jats:styled-content>1<\/jats:italic> mutation. <jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content> was introduced by 2 mg steps at 2\u20134 week intervals until 6 mg\/day, with a possible dose reduction or dose increase.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ten patients had a clear clinical response of myoclonus, and five were able to reduce concomitant therapy. Improvement was noted sometimes as soon as with 2 mg\/day. Epileptic seizures stopped on <jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content> in the six patients who still had experienced generalized tonic\u2013clonic or myoclonic seizures (100%). Some abatement of efficacy on myoclonus was seen in two patients who still retained some benefit. Weight gain was reported in six patients (50%). Psychological and behavioral side\u2010effects were observed in six patients (50%) and led to withdrawal of <jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content> in three cases and dose reduction in three, with abatement of the problems.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>This study provides evidence that for <jats:styled-content style=\"fixed-case\">ULD<\/jats:styled-content> patients, <jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content> may show marked efficacy even in severe cases, particularly against myoclonus, but also against seizures. <jats:styled-content style=\"fixed-case\">PER<\/jats:styled-content> should thus be tried in <jats:styled-content style=\"fixed-case\">ULD<\/jats:styled-content> patients whose seizures are not satisfactorily controlled. Its use is limited because of psychological and behavioral side effects, with higher doses of approximately 6 mg\/day or greater likely risk factors.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.13662","type":"journal-article","created":{"date-parts":[[2017,2,6]],"date-time":"2017-02-06T17:47:03Z","timestamp":1486403223000},"page":"543-547","source":"Crossref","is-referenced-by-count":67,"title":["Perampanel in 12 patients with Unverricht\u2010Lundborg disease"],"prefix":"10.1111","volume":"58","author":[{"given":"Arielle","family":"Crespel","sequence":"first","affiliation":[{"name":"Epilepsy Unit H\u00f4pital Gui de Chauliac Montpellier France"},{"name":"Research Unit (URCMA: Unit\u00e9 de Recherche sur les Comportements et Mouvements Anormaux) INSERM, U661 Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Gelisse","sequence":"additional","affiliation":[{"name":"Epilepsy Unit H\u00f4pital Gui de Chauliac Montpellier France"},{"name":"Research Unit (URCMA: Unit\u00e9 de Recherche sur les Comportements et Mouvements Anormaux) INSERM, U661 Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc Phuong Loc","family":"Tang","sequence":"additional","affiliation":[{"name":"Epilepsy Unit H\u00f4pital Gui de Chauliac Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[{"name":"Centre Saint Paul\u2010H. Gastaut Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2009.01.001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.9.3696"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_8_6_1","first-page":"575","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"Genton P","year":"2012"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13275"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)90749-3"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00829.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001930"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2013.07.003"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2014.09.003"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2016.06.041"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1586\/17512433.2015.1091303"},{"issue":"1","key":"e_1_2_8_15_1","first-page":"49","article-title":"Piracetam in the treatment of cortical myoclonus","volume":"32","author":"Genton P","year":"1999","journal-title":"Pharmacopsychiatry"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13662","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.13662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:46:59Z","timestamp":1696326419000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.13662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,6]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1111\/epi.13662"],"URL":"https:\/\/doi.org\/10.1111\/epi.13662","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,6]]}}}