{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:19:09Z","timestamp":1785435549282,"version":"3.56.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T00:00:00Z","timestamp":1314835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We describe two unrelated girls with congenital muscular dystrophy associated with alpha\u2010dystroglycan deficit with no identified genetic defect, both presenting severe drug\u2010resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker\u2010Warburg, Fukuyama and muscle\u2010eye\u2010brain diseases.\n                    <jats:italic>[Published with video sequences]<\/jats:italic>\n                  <\/jats:p>","DOI":"10.1684\/epd.2011.0461","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:19Z","timestamp":1564737859000},"page":"259-262","source":"Crossref","is-referenced-by-count":9,"title":["A new form of alpha\u2010dystroglycanopathy associated with severe drug\u2010resistant epilepsy and unusual EEG features"],"prefix":"10.1002","volume":"13","author":[{"given":"Gabriella","family":"Di Rosa","sequence":"first","affiliation":[{"name":"Unit of Infantile Neuropsychiatry Department of Medical and Surgical Pediatrics University Hospital of Messina Messina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Catholic University Rome"},{"name":"Department of Neurosciences Psychiatry and Anaestesiology University of Messina Messina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders Dept. Neuroscience Bambino Gesu' Children's Research Hospital Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders Dept. Neuroscience Bambino Gesu' Children's Research Hospital Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Pustorino","sequence":"additional","affiliation":[{"name":"U.O.C. di Neuropsichiatria Infantile A.O.U. \u201cOspedali Riuniti\u201d Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Span\u00f2","sequence":"additional","affiliation":[{"name":"Unit of Infantile Neuropsychiatry Department of Medical and Surgical Pediatrics University Hospital of Messina Messina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Tortorella","sequence":"additional","affiliation":[{"name":"Unit of Infantile Neuropsychiatry Department of Medical and Surgical Pediatrics University Hospital of Messina Messina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.08.003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0096-y"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c0d47a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000082441.97535.ED"},{"key":"e_1_2_6_6_1","first-page":"129","article-title":"Muscular dystrophies due to defective glycosylation of dystroglycan","volume":"26","author":"Muntoni F","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(96)00028-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000100038"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210021601"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr027"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.05.012"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2011.0461","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:30:23Z","timestamp":1710765023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2011.0461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1684\/epd.2011.0461"],"URL":"https:\/\/doi.org\/10.1684\/epd.2011.0461","archive":["Portico"],"relation":{"is-cited-by":[{"id-type":"doi","id":"10.3389\/fcell.2018.00119","asserted-by":"object"}]},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}