{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:27:00Z","timestamp":1791973620861,"version":"4.4.0"},"reference-count":88,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1016\/j.spen.2015.10.002","type":"journal-article","created":{"date-parts":[[2015,10,24]],"date-time":"2015-10-24T22:53:39Z","timestamp":1445727219000},"page":"259-273","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":117,"title":["Genotype\/Phenotype Correlations in Tuberous Sclerosis Complex"],"prefix":"10.1016","volume":"22","author":[{"given":"Paolo","family":"Curatolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Moavero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Roberto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Graziola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.spen.2015.10.002_bib1","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.spen.2015.10.002_bib2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","article-title":"Epidemiology of tuberous sclerosis","volume":"615","author":"Osborne","year":"1991","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.spen.2015.10.002_bib3","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","author":"O\u2019Callaghan","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.spen.2015.10.002_bib4","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"The tuberous sclerosis complex","volume":"355","author":"Crino","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.spen.2015.10.002_bib5","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","article-title":"Neurological and neuropsychiatric aspects of tuberous sclerosis complex","volume":"14","author":"Curatolo","year":"2015","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib6","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","author":"Shepherd","year":"1991","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.spen.2015.10.002_bib7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.acra.2011.08.016","article-title":"Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex","volume":"19","author":"Peters","year":"2012","journal-title":"Acad Radiol"},{"key":"10.1016\/j.spen.2015.10.002_bib8","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1093\/cercor\/bhs135","article-title":"Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders","volume":"23","author":"Lewis","year":"2013","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.spen.2015.10.002_bib9","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1111\/j.1528-1167.2009.02474.x","article-title":"The natural history of epilepsy in tuberous sclerosis complex","volume":"51","author":"Chu-Shore","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2015.10.002_bib10","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1212\/01.wnl.0000280579.04974.c0","article-title":"Cognitive impairment in tuberous sclerosis complex is a multifactorial condition","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib11","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.pediatrneurol.2014.10.004","article-title":"Tuberous sclerosis complex associated neuropsychiatric disorders (TAND) and the TAND checklist","volume":"52","author":"de Vries","year":"2015","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib12","doi-asserted-by":"crossref","first-page":"3807","DOI":"10.1172\/JCI58709","article-title":"Lymphangioleiomyomatosis\u2014A wolf in sheep\u2019s clothing","volume":"122","author":"Henske","year":"2012","journal-title":"J Clin Invest"},{"key":"10.1016\/j.spen.2015.10.002_bib13","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","author":"European Chromosome 16 Tuberous Sclerosis Consortium","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.spen.2015.10.002_bib14","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"van Slegtenhorst","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.spen.2015.10.002_bib15","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.molmed.2011.07.008","article-title":"mTOR: A pathogenic signaling pathway in developmental brain malformations","volume":"17","author":"Crino","year":"2011","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.spen.2015.10.002_bib16","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.braindev.2008.09.013","article-title":"Recent advances in neurobiology of Tuberous Sclerosis Complex","volume":"21","author":"Napolioni","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2015.10.002_bib17","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1177\/088307389801301206","article-title":"Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria","volume":"13","author":"Roach","year":"1998","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib18","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib19","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/humu.22007","article-title":"Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex","volume":"33","author":"Hoogeveen-Westerveld","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.spen.2015.10.002_bib20","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/humu.22202","article-title":"Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex","volume":"34","author":"Hoogeveen-Westerveld","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.spen.2015.10.002_bib21","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1212\/01.WNL.0000113745.58425.EF","article-title":"Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits","volume":"62","author":"Humphrey","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib22","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1177\/0883073807307093","article-title":"Intrafamilial phenotypic variability in tuberous sclerosis complex","volume":"22","author":"Lyczkowski","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib23","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1097\/GIM.0b013e31803068c7","article-title":"Genotype\/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States","volume":"9","author":"Au","year":"2007","journal-title":"Genet Med"},{"key":"10.1016\/j.spen.2015.10.002_bib24","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.braindev.2006.01.006","article-title":"Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex","volume":"28","author":"Choi","year":"2006","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2015.10.002_bib25","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/302381","article-title":"Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis","volume":"64","author":"Jones","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib26","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K","article-title":"Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis","volume":"14","author":"Niida","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1016\/j.spen.2015.10.002_bib27","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.36.4.285","article-title":"Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation","volume":"36","author":"van Slegtenhorst","year":"1999","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib28","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1212\/01.wnl.0000280578.99900.96","article-title":"Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib29","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","author":"Dabora","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib30","series-title":"Tuberous Sclerosis Complex\u2014Genes, Clinical Features, and Therapeutics","article-title":"Genotype-phenotype studies in TSC and molecular diagnostics","author":"Au","year":"2010"},{"key":"10.1016\/j.spen.2015.10.002_bib31","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00439-006-0308-9","article-title":"Identification of 54 large deletions\/ duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations","volume":"121","author":"Kozlowski","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib32","series-title":"Tuberous Sclerosis Complex\u2014Genes, Clinical Features, and Therapeutics","article-title":"Genetics of tuberous sclerosis complex","author":"Kwiatkowski","year":"2010"},{"key":"10.1016\/j.spen.2015.10.002_bib33","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s12881-015-0155-4","article-title":"Targeted next generation sequencing reveals previously unidentified TSC1 and TSC2 mutations","volume":"16","author":"Nellist","year":"2015","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib34","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1086\/321972","article-title":"Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions","volume":"69","author":"Niida","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib35","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1086\/514888","article-title":"Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene","volume":"61","author":"Sampson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib36","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1086\/302412","article-title":"High rate of mosaicism in tuberous sclerosis complex","volume":"64","author":"Verhoef","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib37","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1007\/s00439-010-0801-z","article-title":"Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex","volume":"127","author":"Qin","year":"2010","journal-title":"Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib38","unstructured":"Tyburczy M, Chekaluk YI, Dies K, Sahin M, et al: Molecular pathogenesis of tuberous sclerosis complex (TSC) in patients with no mutation identified in TSC1 or TSC2. International TSC-LAM Research Conference. Beijing (China), 2014"},{"key":"10.1016\/j.spen.2015.10.002_bib39","unstructured":"Kwiatkowski D, Farber D: Genetics and potential for personalized medicine. Windsor \u2014TSC International Research Conference, 2015"},{"key":"10.1016\/j.spen.2015.10.002_bib40","unstructured":"Kwiatkowski D: Tuberous sclerosis complex: Germline and somatic genetics, I.T.-L.R. Conference, 2014"},{"key":"10.1016\/j.spen.2015.10.002_bib41","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/jmg.2003.012757","article-title":"Genotype and psychological phenotype in tuberous sclerosis","volume":"41","author":"Lewis","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib42","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5201402","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex","volume":"13","author":"Sancak","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib43","doi-asserted-by":"crossref","first-page":"e1146","DOI":"10.1542\/peds.2006-0504","article-title":"Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex","volume":"118","author":"Jozwiak","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2015.10.002_bib44","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","author":"Rakowski","year":"2006","journal-title":"Kidney Int"},{"key":"10.1016\/j.spen.2015.10.002_bib45","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","author":"Muzykewicz","year":"2007","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.spen.2015.10.002_bib46","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1212\/01.wnl.0000250330.44291.54","article-title":"Cognitive prognosis of patients with tuberous sclerosis complex","volume":"68","author":"Winterkorn","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib47","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1469-1809.2008.00496.x","article-title":"Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified","volume":"73","author":"Camposano","year":"2009","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib48","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1212\/01.wnl.0000345365.92821.86","article-title":"Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex","volume":"72","author":"Chu-Shore","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib49","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ejhg.2011.241","article-title":"Genotype and cognitive phenotype of patients with tuberous sclerosis complex","volume":"20","author":"van Eeghen","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib50","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s00234-013-1184-3","article-title":"The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines","volume":"55","author":"van Eeghen","year":"2013","journal-title":"Neuroradiology"},{"key":"10.1016\/j.spen.2015.10.002_bib51","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/cge.12245","article-title":"Tuberous sclerosis complex without tubers and subependymal nodules: A phenotype-genotype study","volume":"86","author":"Boronat","year":"2014","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib52","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1684\/epd.2014.0712","article-title":"Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: Genotype and epilepsy","volume":"16","author":"Lee","year":"2014","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.spen.2015.10.002_bib53","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1111\/epi.13050","article-title":"Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs","volume":"56","author":"Overwater","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2015.10.002_bib54","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1111\/epi.12680","article-title":"Severity of manifestations in tuberous sclerosis complex in relation to genotype","volume":"55","author":"Kothare","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2015.10.002_bib55","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1136\/jnnp.66.3.370","article-title":"Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis","volume":"66","author":"Nabbout","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.spen.2015.10.002_bib56","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","article-title":"and G International Tuberous Sclerosis Complex Consensus, Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference","volume":"49","author":"Krueger","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib57","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1177\/08830738050200040901","article-title":"Intractable seizures in tuberous sclerosis complex: From molecular pathogenesis to the rationale for treatment","volume":"20","author":"Curatolo","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib58","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.eplepsyres.2012.07.007","article-title":"Central TSC2 missense mutations are associated with a reduced risk of infantile spasms","volume":"103","author":"van Eeghen","year":"2013","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.spen.2015.10.002_bib59","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/ana.21037","article-title":"Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation","volume":"60","author":"Jansen","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib60","doi-asserted-by":"crossref","first-page":"e64","DOI":"10.1136\/jmg.2003.010835","article-title":"Characterization of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis","volume":"41","author":"Mayer","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib61","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/j.1399-0004.2011.01648.x","article-title":"Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds","volume":"81","author":"Wentink","year":"2012","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib62","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1212\/01.WNL.0000073272.47681.BB","article-title":"A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation","volume":"61","author":"O\u2019Connor","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib63","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1017\/S0033291702007092","article-title":"Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex","volume":"3","author":"Joinson","year":"2003","journal-title":"Psychol Med"},{"key":"10.1016\/j.spen.2015.10.002_bib64","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/adc.2003.026815","article-title":"The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex","volume":"89","author":"O\u2019Callaghan","year":"2004","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.spen.2015.10.002_bib65","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1111\/j.1528-1167.2008.01788.x","article-title":"Infantile spasms in tuberous sclerosis complex: Prognostic utility of EEG","volume":"50","author":"Muzykewicz","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2015.10.002_bib66","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0387-7604(02)00017-7","article-title":"Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex","volume":"24","author":"Yamamoto","year":"2002","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2015.10.002_bib67","first-page":"81","article-title":"Sclerose tubereuse des circonvolutions cerebrales: Idioties et epilepsie hemiplegique","author":"Bourneville","year":"1880","journal-title":"Arch Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib68","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.pediatrneurol.2014.10.006","article-title":"Pilot validation of the tuberous sclerosis associated neuropsychiatric disorders (TAND) checklist","volume":"52","author":"Leclezio","year":"2014","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib69","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1177\/104012371102300405","article-title":"Psychiatric comorbidity and treatment response in patients with tuberous sclerosis complex","volume":"23","author":"Chung","year":"2011","journal-title":"Ann Clin Psychiatry"},{"key":"10.1016\/j.spen.2015.10.002_bib70","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1177\/0883073810361789","article-title":"Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment","volume":"25","author":"Curatolo","year":"2010","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2015.10.002_bib71","first-page":"1801","article-title":"Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis","volume":"63","author":"Krueger","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1016\/j.spen.2015.10.002_bib72","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1159\/000320891","article-title":"Tuberous sclerosis complex renal disease","volume":"118","author":"Dixon","year":"2011","journal-title":"Nephron Exp Nephrol"},{"key":"10.1016\/j.spen.2015.10.002_bib73","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng1294-328","article-title":"Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease\u2014A contiguous gene syndrome","volume":"8","author":"Brook-Carter","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib74","first-page":"E1","article-title":"Molecular analysis of TSC2\/PKD1 contiguous gene deletion syndrome","volume":"57","author":"Oyazato","year":"2011","journal-title":"Kobe J Med Sci"},{"key":"10.1016\/j.spen.2015.10.002_bib75","doi-asserted-by":"crossref","first-page":"E17","DOI":"10.1136\/jmg.40.2.e17","article-title":"Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease","volume":"40","author":"Smulders","year":"2003","journal-title":"J Mod Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib76","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1183\/09031936.00088314","article-title":"Severity and outcome of cystic lung disease in women with tuberous sclerosis complex","volume":"45","author":"Taveira-DaSilva","year":"2015","journal-title":"Eur Respir J"},{"key":"10.1016\/j.spen.2015.10.002_bib77","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1086\/301804","article-title":"Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis","volume":"62","author":"Smolarek","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib78","doi-asserted-by":"crossref","first-page":"6085","DOI":"10.1073\/pnas.97.11.6085","article-title":"Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis","volume":"97","author":"Carsillo","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.spen.2015.10.002_bib79","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s10038-002-8651-8","article-title":"Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis","volume":"47","author":"Sato","year":"2002","journal-title":"J Hum Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib80","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1016\/j.ophtha.2012.03.020","article-title":"Tuberous sclerosis complex: Genotype\/phenotype correlation of retinal findings","volume":"119","author":"Aronow","year":"2012","journal-title":"Ophthalmology"},{"key":"10.1016\/j.spen.2015.10.002_bib81","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1055\/s-2008-1048567","article-title":"The incidence of hepatic hamartomas in tuberous sclerosis. Evaluation by ultrasonography","volume":"146","author":"Fleury","year":"1987","journal-title":"Rofo"},{"key":"10.1016\/j.spen.2015.10.002_bib82","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1136\/adc.67.11.1363","article-title":"Incidence of hepatic hamartomas in tuberous sclerosis","volume":"67","author":"Jozwiak","year":"1992","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.spen.2015.10.002_bib83","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.2214\/ajr.182.4.1821027","article-title":"Frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis","volume":"182","author":"Fricke","year":"2004","journal-title":"AJR Am J Roentgenol"},{"key":"10.1016\/j.spen.2015.10.002_bib84","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/j.1399-0004.2012.01845.x","article-title":"Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis","volume":"82","author":"Black","year":"2012","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2015.10.002_bib85","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1212\/WNL.32.6.604","article-title":"Tuberous sclerosis, early onset of seizures, and mental subnormality: Study of discordant homozygous twins","volume":"32","author":"Gomez","year":"1982","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2015.10.002_bib86","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0140-6736(12)61767-X","article-title":"Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): A multicentre, randomised, double-blind, placebo-controlled trial","volume":"381","author":"Bissler","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.spen.2015.10.002_bib87","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S0140-6736(12)61134-9","article-title":"Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): A multicentre, randomised, placebo-controlled phase 3 trial","volume":"381","author":"Franz","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.spen.2015.10.002_bib88","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1038\/ejhg.2015.47","article-title":"Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2","volume":"23","author":"Kwiatkowski","year":"2015","journal-title":"Eur J Hum Genet"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909115000698?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909115000698?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T06:36:29Z","timestamp":1761028589000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909115000698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":88,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["S1071909115000698"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2015.10.002","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype\/Phenotype Correlations in Tuberous Sclerosis Complex","name":"articletitle","label":"Article Title"},{"value":"Seminars in Pediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.spen.2015.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}