{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T05:30:18Z","timestamp":1785216618516,"version":"3.55.0"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-025-04718-6","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T11:50:56Z","timestamp":1751025056000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations"],"prefix":"10.1038","volume":"15","author":[{"given":"Andrea Domenico","family":"Pratic\u00f2","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Di Napoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Salafia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Dammino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Piccione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cal\u00ec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Scifo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Vecchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Zonta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bonsignore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Elia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Lo Bianco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Polizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,27]]},"reference":[{"key":"4718_CR1","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","volume":"615","author":"JP Osborne","year":"1991","unstructured":"Osborne, J. P. et al. Epidemiology of tuberous sclerosis. Ann. N. Y. Acad. Sci. 615, 125\u2013127 (1991).","journal-title":"Ann. N Y Acad. Sci."},{"key":"4718_CR2","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/0387-7604(94)00130-8","volume":"17 Suppl","author":"MR G\u00f3mez","year":"1995","unstructured":"G\u00f3mez, M. R. et al. History of the tuberous sclerosis complex. Brain Dev. 17 Suppl, 55\u201357 (1995).","journal-title":"Brain Dev."},{"key":"4718_CR3","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1111\/neup.12515","volume":"38","author":"F Brigo","year":"2018","unstructured":"Brigo, F. et al. First descriptions of tuberous sclerosis by D\u00e9sir\u00e9-Magloire Bourneville (1840\u20131909). Neuropathology 38, 577\u2013582 (2018).","journal-title":"Neuropathology"},{"issue":"1","key":"4718_CR4","doi-asserted-by":"publisher","first-page":"7664","DOI":"10.1038\/s41467-023-42855-6","volume":"14","author":"F Huschner","year":"2023","unstructured":"Huschner, F. et al. Molecular EPISTOP, a comprehensive multi-omic analysis of blood from tuberous sclerosis complex infants age birth to two years. Nat. Commun. 14(1), 7664 (2023).","journal-title":"Nat. Commun."},{"key":"4718_CR5","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1038\/ng0992-37","volume":"2","author":"RS Kandt","year":"1992","unstructured":"Kandt, R. S. et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat. Genet. 2, 37\u201341 (1992).","journal-title":"Nat. Genet."},{"key":"4718_CR6","doi-asserted-by":"publisher","first-page":"4899372","DOI":"10.1155\/2023\/4899372","volume":"2023","author":"HD West","year":"2023","unstructured":"West, H. D. et al. Targeted genomic sequencing of TSC1 and TSC2 reveals causal variants in individuals for whom previous genetic testing for tuberous sclerosis complex was normal. Hum. Mutat. 2023, 4899372 (2023).","journal-title":"Hum. Mutat."},{"key":"4718_CR7","doi-asserted-by":"publisher","first-page":"e1005637","DOI":"10.1371\/journal.pgen.1005637","volume":"11","author":"ME Tyburczy","year":"2015","unstructured":"Tyburczy, M. E. et al. Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 11, e1005637 (2015).","journal-title":"PLoS Genet."},{"key":"4718_CR8","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1002\/humu.24454","volume":"43","author":"Z Ye","year":"2022","unstructured":"Ye, Z. et al. Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. Hum. Mutat. 43, 1956\u20131969 (2022).","journal-title":"Hum. Mutat."},{"key":"4718_CR9","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1038\/ncb839","volume":"4","author":"K Inoki","year":"2002","unstructured":"Inoki, K. et al. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat. Cell. Biol. 4, 648\u2013657 (2002).","journal-title":"Nat. Cell. Biol."},{"key":"4718_CR10","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","volume":"123","author":"H Northrup","year":"2021","unstructured":"Northrup, H. et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr. Neurol. 123, 50\u201366 (2021).","journal-title":"Pediatr. Neurol."},{"key":"4718_CR11","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","volume":"14","author":"P Curatolo","year":"2015","unstructured":"Curatolo, P. et al. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 14, 733\u2013745 (2015).","journal-title":"Lancet Neurol."},{"key":"4718_CR12","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1055\/s-0042-1759689","volume":"80","author":"ALR Pinto","year":"2022","unstructured":"Pinto, A. L. R. et al. Neurological manifestations of tuberous sclerosis complex: The importance of early diagnosis. Arq. Neuropsiquiatr. 80, 983\u2013984 (2022).","journal-title":"Arq. Neuropsiquiatr."},{"key":"4718_CR13","doi-asserted-by":"publisher","first-page":"697467","DOI":"10.3389\/fneur.2021.697467","volume":"12","author":"R Nabbout","year":"2021","unstructured":"Nabbout, R. et al. Historical patterns of diagnosis, treatments, and outcome of epilepsy associated with tuberous sclerosis complex: Results from TOSCA registry. Front. Neurol. 12, 697467 (2021).","journal-title":"Front. Neurol."},{"key":"4718_CR14","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1086\/316951","volume":"68","author":"SL Dabora","year":"2001","unstructured":"Dabora, S. L. et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 68, 64\u201380 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"4718_CR15","unstructured":"Northrup, H., Koenig, M. K., Pearson, D. A., Au, K. S. & Tuberous sclerosis complex. In GeneReviews\u00ae (eds Adam, M. P., Feldman, J., Mirzaa, G. M., Pagon, R. A., Wallace, S. E. & Amemiya, A.) (University of Washington, 1999)."},{"key":"4718_CR16","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ajmg.c.31651","volume":"178","author":"A Peron","year":"2018","unstructured":"Peron, A. et al. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice. Am. J. Med. Genet. C Semin Med. Genet. 178, 281\u2013290 (2018).","journal-title":"Am. J. Med. Genet. C Semin Med. Genet."},{"key":"4718_CR17","doi-asserted-by":"publisher","first-page":"2023","DOI":"10.1093\/hmg\/ddt597","volume":"23","author":"ME Tyburczy","year":"2014","unstructured":"Tyburczy, M. E. et al. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum. Mol. Genet. 23, 2023\u20132029 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"4718_CR18","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/path.4827","volume":"241","author":"HC Lam","year":"2017","unstructured":"Lam, H. C., Nijmeh, J. & Henske, E. P. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J. Pathol. 241, 219\u2013225 (2017).","journal-title":"J. Pathol."},{"key":"4718_CR19","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/B978-0-444-52891-9.00038-5","volume":"111","author":"P Curatolo","year":"2013","unstructured":"Curatolo, P. et al. Tuberous sclerosis. Handb. Clin. Neurol. 111, 323\u2013331 (2013).","journal-title":"Handb. Clin. Neurol."},{"key":"4718_CR20","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/s00431-001-0903-7","volume":"161","author":"N Langkau","year":"2002","unstructured":"Langkau, N. et al. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1\/TSC2 frequency ratios. Eur. J. Pediatr. 161, 393\u2013402 (2002).","journal-title":"Eur. J. Pediatr."},{"key":"4718_CR21","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1038\/sj.ejhg.5201402","volume":"13","author":"O Sancak","year":"2005","unstructured":"Sancak, O. et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur. J. Hum. Genet. 13, 731\u2013741 (2005).","journal-title":"Eur. J. Hum. Genet."},{"key":"4718_CR22","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1097\/GIM.0b013e31803068c7","volume":"9","author":"KS Au","year":"2007","unstructured":"Au, K. S. et al. Genotype\/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the united States. Genet. Med. 9, 88\u2013100 (2007).","journal-title":"Genet. Med."},{"key":"4718_CR23","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1086\/302381","volume":"64","author":"AC Jones","year":"1999","unstructured":"Jones, A. C. et al. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am. J. Hum. Genet. 64, 1305\u20131315 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"4718_CR24","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1590\/1678-4685-gmb-2015-0321","volume":"40","author":"C Rosset","year":"2017","unstructured":"Rosset, C. et al. TSC1 and TSC2 gene mutations and their implications for treatment in tuberous sclerosis complex: A review. Genet. Mol. Biol. 40, 69\u201379 (2017).","journal-title":"Genet. Mol. Biol."},{"key":"4718_CR25","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1111\/epi.12680","volume":"55","author":"SV Kothare","year":"2014","unstructured":"Kothare, S. V. et al. Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia 55, 1025\u20131029 (2014).","journal-title":"Epilepsia"},{"key":"4718_CR26","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1727142","author":"C Di Napoli","year":"2021","unstructured":"Di Napoli, C. et al. TSC1 and TSC2: Tuberous sclerosis complex and its related epilepsy phenotype. J. Pediatr. Neurol. https:\/\/doi.org\/10.1055\/s-0041-1727142 (2021).","journal-title":"J. Pediatr. Neurol."},{"key":"4718_CR27","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1093\/hmg\/ddq491","volume":"20","author":"L-H Zeng","year":"2011","unstructured":"Zeng, L-H. et al. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. Hum. Mol. Genet. 20, 445\u2013454 (2011).","journal-title":"Hum. Mol. Genet."},{"issue":"9","key":"4718_CR28","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1007\/s40263-021-00835-8","volume":"35","author":"R Nabbout","year":"2021","unstructured":"Nabbout, R., Kuchenbuch, M., Chiron, C. & Curatolo, P. Pharmacotherapy for seizures in tuberous sclerosis complex. CNS Drugs 35(9), 965\u2013983 (2021).","journal-title":"CNS Drugs"},{"key":"4718_CR29","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.pediatrneurol.2021.09.017","volume":"126","author":"M Nabavi Nouri","year":"2022","unstructured":"Nabavi Nouri, M. et al. Epilepsy management in tuberous sclerosis complex: Existing and evolving therapies and future considerations. Pediatr. Neurol. 126, 11\u201319 (2022).","journal-title":"Pediatr. Neurol."},{"key":"4718_CR30","doi-asserted-by":"publisher","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","volume":"2","author":"EP Henske","year":"2016","unstructured":"Henske, E. P. et al. Tuberous sclerosis complex. Nat. Rev. Dis. Prim. 2, 16035 (2016).","journal-title":"Nat. Rev. Dis. Primers"},{"key":"4718_CR31","doi-asserted-by":"crossref","unstructured":"Feliciano, D. M. et al. The neurodevelopmental pathogenesis of tuberous sclerosis complex (TSC). Front. Neuroanat. 14 (2020).","DOI":"10.3389\/fnana.2020.00039"},{"key":"4718_CR32","doi-asserted-by":"publisher","first-page":"2321","DOI":"10.1017\/S0033291715000264","volume":"45","author":"PF Bolton","year":"2015","unstructured":"Bolton, P. F. et al. Intellectual abilities in tuberous sclerosis complex: Risk factors and correlates from the tuberous sclerosis 2000 study. Psychol. Med. 45, 2321\u20132331 (2015).","journal-title":"Psychol. Med."},{"key":"4718_CR33","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1017\/S0033291702007092","volume":"33","author":"C Joinson","year":"2003","unstructured":"Joinson, C. et al. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol. Med. 33, 335\u2013344 (2003).","journal-title":"Psychol. Med."},{"key":"4718_CR34","first-page":"603","volume":"11","author":"PJ de Vries","year":"2020","unstructured":"de Vries, P. J. et al. Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): New findings on age, sex, and genotype in relation to intellectual phenotype. Front. Neurol. 11, 603 (2020).","journal-title":"Front. Neurol."},{"key":"4718_CR35","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/ejhg.2011.241","volume":"20","author":"AM van Eeghen","year":"2012","unstructured":"van Eeghen, A. M. et al. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur. J. Hum. Genet. 20, 510\u2013515 (2012).","journal-title":"Eur. J. Hum. Genet."},{"issue":"4","key":"4718_CR36","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1002\/humu.22951","volume":"37","author":"R Ekong","year":"2016","unstructured":"Ekong, R. et al. Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis. Hum. Mutat. 37(4), 364\u2013370 (2016).","journal-title":"Hum. Mutat."},{"issue":"3","key":"4718_CR37","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1002\/ajmg.a.38083","volume":"173","author":"LS Farach","year":"2017","unstructured":"Farach, L. S. et al. TSC2 c.1864C > T variant associated with mild cases of tuberous sclerosis complex. Am. J. Med. Genet. A 173(3), 771\u2013775 (2017).","journal-title":"Am. J. Med. Genet. A"},{"issue":"5","key":"4718_CR38","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1002\/ana.21037","volume":"60","author":"AC Jansen","year":"2006","unstructured":"Jansen, A. C. et al. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann. Neurol. 60(5), 528\u2013539 (2006).","journal-title":"Ann. Neurol."},{"issue":"1","key":"4718_CR39","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.eplepsyres.2012.07.007","volume":"103","author":"AM van Eeghen","year":"2013","unstructured":"van Eeghen, A. M. et al. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy Res. 103(1), 83\u201387 (2013).","journal-title":"Epilepsy Res."},{"issue":"3","key":"4718_CR40","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1212\/01.WNL.0000073272.47681.BB","volume":"61","author":"SE O\u2019Connor","year":"2003","unstructured":"O\u2019Connor, S. E. et al. A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology 61(3), 409\u2013412 (2003).","journal-title":"Neurology"},{"issue":"5","key":"4718_CR41","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1111\/j.1399-0004.2011.01648.x","volume":"81","author":"M Wentink","year":"2012","unstructured":"Wentink, M. et al. Functional characterization of the TSC2 c.3598C > T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. Clin. Genet. 81(5), 453\u2013461 (2012).","journal-title":"Clin. Genet."},{"issue":"5","key":"4718_CR42","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1136\/jmg.38.5.347","volume":"38","author":"L Khare","year":"2001","unstructured":"Khare, L. et al. A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. J. Med. Genet. 38(5), 347\u2013349 (2001).","journal-title":"J. Med. Genet."},{"issue":"2","key":"4718_CR43","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1111\/j.1469-1809.2008.00496.x","volume":"73","author":"S Camposano","year":"2009","unstructured":"Camposano, S. et al. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann. Hum. Genet. 73(2), 141\u2013146 (2009).","journal-title":"Ann. Hum. Genet."},{"key":"4718_CR44","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.pediatrneurol.2024.06.012","volume":"159","author":"LS Farach","year":"2024","unstructured":"Farach, L. S. et al. Drug-Resistant epilepsy in tuberous sclerosis complex is associated with TSC2 genotype: More findings from the preventing epilepsy using vigatrin (PREVeNT) trial. Pediatr. Neurol. 159, 62\u201371 (2024).","journal-title":"Pediatr. Neurol."},{"key":"4718_CR45","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1111\/epi.16892","volume":"62","author":"J De Ridder","year":"2021","unstructured":"De Ridder, J. et al. Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes. Epilepsia 62, 1208\u20131219 (2021).","journal-title":"Epilepsia"},{"key":"4718_CR46","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/S1474-4422(22)00213-7","volume":"21","author":"P Curatolo","year":"2022","unstructured":"Curatolo, P. et al. Advances in the genetics and neuropathology of tuberous sclerosis complex: Edging closer to targeted therapy. Lancet Neurol. 21, 843\u2013856 (2022).","journal-title":"Lancet Neurol."},{"issue":"6","key":"4718_CR47","doi-asserted-by":"publisher","first-page":"788","DOI":"10.3390\/jcm8060788","volume":"8","author":"R Moavero","year":"2019","unstructured":"Moavero, R. et al. Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study. J. Clin. Med. 8(6), 788 (2019).","journal-title":"J. Clin. Med."},{"issue":"12","key":"4718_CR48","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1002\/acn3.494","volume":"4","author":"DA Krueger","year":"2017","unstructured":"Krueger, D. A. et al. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann. Clin. Transl. Neurol. 4(12), 877\u2013887 (2017).","journal-title":"Ann. Clin. Transl Neurol."},{"key":"4718_CR49","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1186\/s13041-016-0222-6","volume":"9","author":"S-K Hwang","year":"2016","unstructured":"Hwang, S-K. et al. Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation. Mol. Brain 9, 56 (2016).","journal-title":"Mol. Brain"},{"issue":"16","key":"4718_CR50","doi-asserted-by":"publisher","first-page":"12886","DOI":"10.3390\/ijms241612886","volume":"24","author":"A Ma\u00e1sz","year":"2023","unstructured":"Ma\u00e1sz, A. et al. Three-year follow-up after intrauterine mTOR inhibitor administration for fetus with TSC-Associated rhabdomyoma. Int. J. Mol. Sci. 24(16), 12886 (2023).","journal-title":"Int. J. Mol. Sci."},{"key":"4718_CR51","doi-asserted-by":"publisher","first-page":"110123","DOI":"10.1016\/j.yebeh.2024.110123","volume":"161","author":"D Samanta","year":"2024","unstructured":"Samanta, D. Evolving treatment strategies for early-life seizures in tuberous sclerosis complex: A review and treatment algorithm. Epilepsy Behav. 161, 110123 (2024).","journal-title":"Epilepsy Behav."},{"issue":"7","key":"4718_CR52","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1111\/j.1528-1167.2009.02474.x","volume":"51","author":"CJ Chu-Shore","year":"2010","unstructured":"Chu-Shore, C. J., Major, P., Camposano, S., Muzykewicz, D. & Thiele, E. A. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51(7), 1236\u20131241 (2010).","journal-title":"Epilepsia"},{"issue":"1","key":"4718_CR53","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/s13244-022-01219-2","volume":"13","author":"G Coban","year":"2022","unstructured":"Coban, G. et al. Synthetic MRI in children with tuberous sclerosis complex. Insights Imaging 13(1), 115 (2022).","journal-title":"Insights Imaging"},{"issue":"1","key":"4718_CR54","doi-asserted-by":"publisher","first-page":"9909","DOI":"10.1038\/s41598-020-66588-4","volume":"10","author":"T Rosengren","year":"2020","unstructured":"Rosengren, T. et al. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. Sci. Rep. 10(1), 9909 (2020).","journal-title":"Sci. Rep."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-04718-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-04718-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-04718-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T13:02:46Z","timestamp":1751029366000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-04718-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,27]]},"references-count":54,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4718"],"URL":"https:\/\/doi.org\/10.1038\/s41598-025-04718-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-5804009\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,27]]},"assertion":[{"value":"10 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Approvement of the Ethical committee of the University has been obtained, as well as consent to participate from patients and\/or parents or legal guardians of minor patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of this study was obtained from all adult patients and the parents or legal guardians of minor participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"20347"}}