{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T12:44:21Z","timestamp":1781700261419,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,2,25]],"date-time":"2009-02-25T00:00:00Z","timestamp":1235520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic\u2010clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht\u2010Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis. \u00a9 2009 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22489","type":"journal-article","created":{"date-parts":[[2009,2,25]],"date-time":"2009-02-25T15:04:47Z","timestamp":1235574287000},"page":"1016-1022","source":"Crossref","is-referenced-by-count":15,"title":["Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment"],"prefix":"10.1002","volume":"24","author":[{"given":"Edoardo","family":"Ferlazzo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Italiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Calarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Laguitton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Placido","family":"Bramanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Di Bella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,5,28]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198607313150506"},{"key":"e_1_2_8_3_2","first-page":"441","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"Genton P","year":"2005"},{"key":"e_1_2_8_4_2","series-title":"Advances in neurology","volume-title":"Myoclonus and paroxysmal dyskinesias","author":"Frucht SJ","year":"2002"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/386847a0"},{"key":"e_1_2_8_6_2","first-page":"342","article-title":"Identification of mutation in cystatin B, the gene responsible for the Unverricht\u2010Lundborg type of progressive myoclonus epilepsy (EPM1)","volume":"60","author":"Lalioti MD","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1392"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0370-4475(74)80052-3"},{"key":"e_1_2_8_10_2","first-page":"219","article-title":"Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases","volume":"3","author":"Franceschetti S","year":"1993","journal-title":"Acta Neurol Scand"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.10.006"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh377"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000148600.60470.E6"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.003"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-007-0066-7"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9"},{"key":"e_1_2_8_17_2","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/j.1750-3639.2003.tb00486.x","article-title":"Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency","volume":"4","author":"Nijssen PC","year":"2003","journal-title":"Brain Pathol"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00142.x"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000098997.23471.65"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn007"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21121"},{"key":"e_1_2_8_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314464"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.5.1087"},{"key":"e_1_2_8_24_2","first-page":"119","article-title":"Biotin\u2010responsive encephalopathy with myoclonus, ataxia, and seizures","volume":"43","author":"Bressman S","year":"1986","journal-title":"Adv Neurol"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410180517"},{"key":"e_1_2_8_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0766-3"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22489","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22489","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22489","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:42:34Z","timestamp":1760956954000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,15]]},"references-count":25,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,5,15]]}},"alternative-id":["10.1002\/mds.22489"],"URL":"https:\/\/doi.org\/10.1002\/mds.22489","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,15]]}}}