{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T14:13:43Z","timestamp":1792678423309,"version":"4.5.0"},"reference-count":22,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2003,5,1]],"date-time":"2003-05-01T00:00:00Z","timestamp":1051747200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2003,5]]},"abstract":"<jats:p>\n                    Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T\n                    <jats:sub>2<\/jats:sub>\n                    -weighted signal known as unidentified bright objects, and mental retardation or learning disabilities. The prevalence of seizures has been reported to range from 3.8 to 6%. In the present study, we evaluated prevalence, type, and etiology of epilepsy in a neurofibromatosis 1 population. A retrospective analysis of 198 patients affected by neurofibromatosis 1 was performed. Fourteen patients (7%) were found to be epileptic. Every patient underwent electroencephalographic examination and neuroimaging investigations. Thirteen were submitted to magnetic resonance imaging (MRI) study and one to computed tomographic (CT) scanning. Single-photon emission computed tomographic and positron emission tomographic studies were performed in a few selected cases. Seizures were partial in 12 of these (85%) and generalized in 2 (15%). In nine (64%), epilepsy was secondary to brain lesions: five of these had cerebral tumors (three with epilepsy as the first symptom), three had cortical malformation, and one had mesial temporal sclerosis. Seizures were controlled rapidly in eight (57%) and drug resistant in four (29%). Two patients were lost at follow-up. All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development. Our observations and our re-evaluation of the literature indicate that patients with neurofibromatosis 1 have an increased risk of epilepsy related to intracranial masses and cytoarchitectural abnormalities, and seizures can represent the first symptom of a tumor or cortical malformation. Brain MRI and, in selected cases, functional studies appear to be useful in patients with neurofibromatosis 1 who present with seizures, especially if associated with mental retardation. ( J Child Neurol 2003;18:338\u2014342).\n                  <\/jats:p>","DOI":"10.1177\/08830738030180050501","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T22:00:05Z","timestamp":1182463205000},"page":"338-342","source":"Crossref","is-referenced-by-count":71,"title":["Epilepsy in Neurofibromatosis 1"],"prefix":"10.1177","volume":"18","author":[{"given":"Rossella","family":"Vivarelli","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Grosso","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvia","family":"Calabrese","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MariaAngela","family":"Farnetani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Di Bartolo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Morgese","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Balestri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Siena, Siena, Italy,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2003,5,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198112313052704"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199211000-00010"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(98)80002-8"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9658"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<7::AID-AJMG4>3.0.CO;2-#"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1993.tb00437.x"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00075-7"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.1993.tb06261.x"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<138::AID-AJMG7>3.0.CO;2-U"},{"key":"atypb13","first-page":"6","volume":"2","author":"Samuelsson B.","year":"1989","journal-title":"Neurofibromatosis"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.3.473"},{"key":"atypb15","unstructured":"Hughes Rac: Neurological complications of neurofibromatosis 1, in Huson SM, Hughes RAC (eds): The Neurofibromatoses. 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London, Chapman and Hall, 1994, 204\u2014232."},{"key":"atypb16","volume-title":"Pediatric Neuroimaging","author":"Barkovich AJ","year":"2002"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1101\/gad.862101"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-3806(01)00190-0"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9327"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/90.4.829"},{"key":"atypb21","first-page":"175","volume":"14","author":"Kato M.","year":"1995","journal-title":"Clin Neuropathol"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.12.1479"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738030180050501","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738030180050501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:34:15Z","timestamp":1777494855000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738030180050501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2003,5]]}},"alternative-id":["10.1177\/08830738030180050501"],"URL":"https:\/\/doi.org\/10.1177\/08830738030180050501","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5]]}}}