{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T20:28:16Z","timestamp":1760300896677},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T00:00:00Z","timestamp":1566518400000},"content-version":"vor","delay-in-days":22,"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":[[2019,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n          <jats:p>\n            <jats:italic>Aims<\/jats:italic>\n            . Unverricht\u2010Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (\n            <jats:italic>CSTB<\/jats:italic>\n            ) gene. We report a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)\u2010like phenotype.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods<\/jats:italic>\n            . The expansion of dodecamers was detected by a deamination\/PCR assay. The expression profiles of\n            <jats:italic>CSTB<\/jats:italic>\n            and other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT\u2010PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Results<\/jats:italic>\n            . Three patients had a fixed phenotype mimicking JME after 29 years of evolution. Only a discrete dysarthria was noticed in the two other patients. No correlation was observed between transcription level and severity of disease.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusion<\/jats:italic>\n            . Genetic screening should be performed in patients with a JME\u2010like phenotype, when careful examination reveals discrete atypical signs of JME. This particular phenotype may be due to modifying genes and\/or gene\u2010environment interactions which require further clarification.\n          <\/jats:p>","DOI":"10.1684\/epd.2019.1078","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T16:28:38Z","timestamp":1706027318000},"page":"359-365","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Juvenile myoclonic epilepsy phenotype in a family with Unverricht\u2010Lundborg disease"],"prefix":"10.1002","volume":"21","author":[{"given":"Amina Gargouri","family":"Berrechid","sequence":"first","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Bendjebara","sequence":"additional","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Bouteiller","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris"},{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, plateforme de g\u00e9notypage et de s\u00e9quen\u00e7age, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Nasri","sequence":"additional","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010No\u00ebl","family":"Peuvion","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re D\u00e9partement de G\u00e9n\u00e9tique Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yannick","family":"Marie","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris"},{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, plateforme de g\u00e9notypage et de s\u00e9quen\u00e7age, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Baulac","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saloua","family":"Mrabet","sequence":"additional","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Th\u00e9o","family":"Ribierre","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"Cazeneuve","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re D\u00e9partement de G\u00e9n\u00e9tique Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Imenkacem","sequence":"additional","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Leguern","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris"},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris"},{"name":"APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re D\u00e9partement de G\u00e9n\u00e9tique Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riadh","family":"Gouider","sequence":"additional","affiliation":[{"name":"Razi Hospital, Department of Neurology LR 18SP03 Tunis"},{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2014.06.037"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004518"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0841"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neucli.2016.03.003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0035-3787(06)75084-6"},{"key":"e_1_2_7_7_1","first-page":"503","article-title":"Unverricht\u2010Lundborg disease: clinical and electrophysiologic study of 19 Maghreb families","volume":"154","author":"Gouider R","year":"1998","journal-title":"RevNeurol (Paris)"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2017.06.005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01422.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2012.11.051"},{"key":"e_1_2_7_12_1","first-page":"541","article-title":"Protective mechanisms by cystatin C in neurodegenerative diseases","volume":"3","author":"Kaur G.","year":"2011","journal-title":"Front Biosci (Schol Ed)"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2011.01.039"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/301798"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0550-z"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0682-09.2009"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00575.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12944"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1515\/hsz-2012-0278"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1080\/078538902320772124"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1992.tb01704.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0179629"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10276"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2019.1078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T16:42:08Z","timestamp":1706028128000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2019.1078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1684\/epd.2019.1078"],"URL":"https:\/\/doi.org\/10.1684\/epd.2019.1078","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8]]},"assertion":[{"value":"2019-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}