{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T00:06:48Z","timestamp":1793232408956,"version":"4.5.0"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2018,11,12]],"date-time":"2018-11-12T00:00:00Z","timestamp":1541980800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% of patients, symptoms began before 1 year of age. The most frequent initial manifestations of TSC were new onset of seizures (68.2%), skin manifestations (46.6%) and development delay (23.9%). During the evolution of the disease 65.9% had epilepsy, 17% facial angiofibromas, 13.6% Shagreen patch, 18.2% heart rhabdomyomas and 12.5% retinal hamartomas. The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive gene mutation in their relative with TSC. The most common manifestations were central nervous system (predominantly epilepsy) and dermatological manifestations. Most of the patients develop epilepsy with multiple seizure types. TSC 2 mutation is more common than TSC 1 mutation.<\/jats:p>","DOI":"10.1515\/tnsci-2018-0023","type":"journal-article","created":{"date-parts":[[2018,11,14]],"date-time":"2018-11-14T09:29:25Z","timestamp":1542187765000},"page":"154-160","source":"Crossref","is-referenced-by-count":12,"title":["Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study"],"prefix":"10.1515","volume":"9","author":[{"given":"Sulaiman","family":"Almobarak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Almuhaizea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Musaad","family":"Abukhaled","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suad","family":"Alyamani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Dabbagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziza","family":"Chedrawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameena","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hesham","family":"Aldhalaan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref211","doi-asserted-by":"crossref","first-page":"e117","DOI":"10.1542\/peds.2010-0192","article-title":"Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs","volume":"127","year":"2011","journal-title":"Pediatrics"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.spen.2015.10.002","article-title":"Genotype\/Phenotype Correlations in Tuberous Sclerosis Complex","volume":"22","year":"2015","journal-title":"Semin Pediatr Neurol"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1086\/316951","article-title":"Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs","volume":"68","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref181","first-page":"1020\u20131024","article-title":"Genotype\/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations","volume":"55","year":"2014","journal-title":"Epilepsia"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.yebeh.2007.07.010","article-title":"Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex","volume":"11","year":"2007","journal-title":"Epilepsy Behav"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1038\/sj.ki.5001853","article-title":"Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors","volume":"70","year":"2006","journal-title":"Kidney Int"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","year":"2008","journal-title":"Lancet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1136\/adc.72.6.471","article-title":"Tuberous sclerosis","volume":"72","year":"1995","journal-title":"Arch Dis Child"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S0025-6196(12)61196-3","article-title":"Causes of death in patients with tuberous sclerosis","volume":"66","year":"1991","journal-title":"Mayo Clin Proc"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.yebeh.2018.05.027","article-title":"Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures","volume":"85","year":"2018","journal-title":"Epilepsy Behav EB"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","article-title":"Prevalence of tuberous sclerosis estimated by capture-recapture analysis","volume":"351","year":"1998","journal-title":"Lancet"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1177\/088307380001501003","article-title":"Schwartz RA, Janniger CK, Bielicka-Cymerman J. 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