{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:26:14Z","timestamp":1792124774021,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T00:00:00Z","timestamp":1545350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008792","name":"Novartis Pharma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2019,3]]},"abstract":"Summary<\/jats:title>\n \n Objective<\/jats:title>\n \n To present the baseline data of the international TuberOus\n SC<\/jats:styled-content>\n lerosis registry to increase disease Awareness (\n TOSCA<\/jats:styled-content>\n ) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (\n TSC<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Retrospective and prospective patients\u2019 data on all aspects of\n TSC<\/jats:styled-content>\n were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Epilepsy was reported in 83.6% of patients (1852\/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4\u00a0year (median <1\u00a0year; range <1\u201030\u00a0years) and at diagnosis of focal seizures was 2.7\u00a0years (median 1\u00a0year; range <1\u201066\u00a0years). A total of 1469 patients (79.3%) were diagnosed with epilepsy <2\u00a0years. The rate of infantile spasms was higher in patients with\n \n a\n TSC<\/jats:italic>\n <\/jats:styled-content>\n 2<\/jats:italic>\n mutation than in patients with\u00a0a\n \n TSC<\/jats:styled-content>\n 1\n <\/jats:italic>\n \u00a0mutation (47.3% vs 23%).\n \n \u0263<\/jats:italic>\n \u2010aminobutyric acid (GABA)\n <\/jats:styled-content>\n ergic drugs were the most common treatment modality for both infantile spasms (78.7%) and focal seizures (65.5%). Infantile spasms and focal seizures were controlled in 76.3% and 58.2% of patients, respectively. Control of seizures was associated with lower rates of intellectual disability in both groups.\n <\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n \n This registry reports the largest international cohort of patients with\n TSC<\/jats:styled-content>\n . Findings confirmed the typical onset pattern of infantile spasms and other focal seizures in the first 2\u00a0years of life, and the high rates of infantile spasms in patients with\n \n TSC<\/jats:styled-content>\n 2\n <\/jats:italic>\n mutation. Our results underscored the occurrence of focal seizures at all ages, including an onset that preceded emergence of infantile spasms. Seizure control was shown to be associated with lower rates of intellectual disability but did not preclude the presence of intellectual disability.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/epi4.12286","type":"journal-article","created":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T17:48:15Z","timestamp":1542304095000},"page":"73-84","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":206,"title":["Epilepsy in tuberous sclerosis complex: Findings from the\n TOSCA<\/scp>\n Study"],"prefix":"10.1002","volume":"4","author":[{"given":"Rima","family":"Nabbout","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Necker Enfants Malades Hospital Paris Descartes University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Belousova","sequence":"additional","affiliation":[{"name":"Research and Clinical Institute of Pediatrics Pirogov Russian National Research Medical University Moscow Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjana P.","family":"Benedik","sequence":"additional","affiliation":[{"name":"SPS Paediatric Clinic Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Carter","sequence":"additional","affiliation":[{"name":"TSA Tuberous Sclerosis Association Nottingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Cottin","sequence":"additional","affiliation":[{"name":"H\u00f4pital Louis Pradel Claude Bernard University Lyon 1 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Curatolo","sequence":"additional","affiliation":[{"name":"Tor Vergata University Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Dahlin","sequence":"additional","affiliation":[{"name":"Karolinska University Hospital Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"D\u00b4Amato","sequence":"additional","affiliation":[{"name":"Novartis Farma S.p.A. Origgio Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume Beaure","family":"d'Aug\u00e8res","sequence":"additional","affiliation":[{"name":"Tuberous Sclerosis Association of Bourneville Gradignan France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petrus J.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Psychiatry University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 C.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Ocidental Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Feucht","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Fladrowski","sequence":"additional","affiliation":[{"name":"Tuberous Sclerosis Association ONLUS Milan Italy"},{"name":"European Tuberous Sclerosis Complex Association In den Birken Dattein Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Hertzberg","sequence":"additional","affiliation":[{"name":"Vivantes Hospital Neukoelln Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergiusz","family":"Jozwiak","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Warsaw Medical University Warsaw Puerto Rico"},{"name":"Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Lawson","sequence":"additional","affiliation":[{"name":"The Tuberous Sclerosis Multidisciplinary Management Clinic Sydney Children's Hospital Randwick NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Macaya","sequence":"additional","affiliation":[{"name":"Vall d\u2019Hebron University Hospital Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben","family":"Marques","sequence":"additional","affiliation":[{"name":"Novartis Farma S.p.A. 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