{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:37Z","timestamp":1791477337070,"version":"4.3.4"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1007\/s00381-020-04726-z","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T14:02:47Z","timestamp":1596722567000},"page":"2489-2496","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Genetics of tuberous sclerosis complex: an update"],"prefix":"10.1007","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2107-9646","authenticated-orcid":false,"given":"Daphna","family":"Marom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,6]]},"reference":[{"key":"4726_CR1","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ajmg.c.31651","volume":"178C","author":"A Peron","year":"2018","unstructured":"Peron A, Sing KA, Northrup H (2018) Genetics, genomics, and genotype\u2013phenotype correlations of TSC: insights for clinical practice. Am J Med Genet 178C:281\u2013290","journal-title":"Am J Med Genet"},{"key":"4726_CR2","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1111\/neup.12515","volume":"38","author":"F Brigo","year":"2018","unstructured":"Brigo F, Lattanzi S, Trink E, Nardone R, Bragazzi NL, Ruggieri M, Martiniand M, Walusinski O (2018) First descriptions of tuberous sclerosis by D\u00e9sir\u00e9-Magloire Bourneville (1840\u20131909). Neuropathology 38:577\u2013582","journal-title":"Neuropathology"},{"key":"4726_CR3","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","volume":"49","author":"H Northrup","year":"2013","unstructured":"Northrup H, Krueger DA, on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:243\u2013254","journal-title":"Pediatr Neurol"},{"key":"4726_CR4","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1177\/088307389801301206","volume":"13","author":"ES Roach","year":"1998","unstructured":"Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624\u2013628","journal-title":"J Child Neurol"},{"key":"4726_CR5","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","volume":"49","author":"DA Krueger","year":"2013","unstructured":"Krueger DA, Northrup H on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255\u2013265","journal-title":"Pediatr Neurol"},{"key":"4726_CR6","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1159\/000448293","volume":"134","author":"JC Kingswood","year":"2012","unstructured":"Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg BA (2012) Review of the tuberous sclerosis renal guidelines from the 2012 consensus conference: current data and future study. Nephron 134:51\u201358","journal-title":"Nephron"},{"key":"4726_CR7","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1007\/s00508-015-0758-y","volume":"127","author":"S Samueli","year":"2015","unstructured":"Samueli S, Abraham K, Dressler A, Groeppel G, Jonak C, Muehlebner A, Prayer D, Reitner A, Feucht M, P\u00e4diatrisches TSC-Zentrum Wien (2015) Tuberous sclerosis complex: new criteria for diagnostic work-up and management. Wien Klin Wochenschr 127:619\u2013630","journal-title":"Wien Klin Wochenschr"},{"key":"4726_CR8","first-page":"1","volume":"2","author":"EP Henske","year":"2016","unstructured":"Henske EP, Jozwiak S, Kingswood JC, Sampson JR, Theile EA (2016) Tuberous sclerosis complex. Nat Rev 2:1\u201318","journal-title":"Nat Rev"},{"key":"4726_CR9","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/bs.adgen.2018.11.003","volume":"103","author":"LJ McEneaney","year":"2019","unstructured":"McEneaney LJ, Tee AR (2019) Finding a cure for tuberous sclerosis complex: from genetics through to targeted drug therapies. Adv Genet 103:91\u2013118","journal-title":"Adv Genet"},{"key":"4726_CR10","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s004390000348","volume":"107","author":"JP Cheadle","year":"2000","unstructured":"Cheadle JP, Reeve PR, Sampson JR, Kwiatkowski DJ (2000) Molecular genetic advances in tuberous sclerosis. Hum Genet 107:97\u2013114","journal-title":"Hum Genet"},{"key":"4726_CR11","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.jaad.2007.05.004","volume":"57","author":"RA Schwartz","year":"2007","unstructured":"Schwartz RA, Fernandez G, Kotulska K, Jozwiak J (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57:189\u2013202","journal-title":"J Am Acad Dermatol"},{"key":"4726_CR12","first-page":"582","volume":"16","author":"P Curatolo","year":"2012","unstructured":"Curatolo P, Jozwiak S, Nabbout R, on behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management in TSC (2012) Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. EJPN 16:582\u2013586","journal-title":"EJPN"},{"key":"4726_CR13","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1002\/ajmg.a.38083","volume":"173A","author":"LS Farach","year":"2017","unstructured":"Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CTR, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H (2017) TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. Am J Med Genet A 173A:771\u2013775","journal-title":"Am J Med Genet A"},{"key":"4726_CR14","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/path.4827","volume":"241","author":"HC Lam","year":"2017","unstructured":"Lam HC, Nijmeh J, Henske EP (2017) New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol 241:219\u2013225","journal-title":"J Pathol"},{"key":"4726_CR15","doi-asserted-by":"publisher","first-page":"2639","DOI":"10.1038\/s41436-019-0562-6","volume":"21","author":"K Giannikou","year":"2019","unstructured":"Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ (2019) Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med 21:2639\u20132643","journal-title":"Genet Med"},{"issue":"5","key":"4726_CR16","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, on behalf of the ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"key":"4726_CR17","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1016\/S0140-6736(16)31419-2","volume":"388","author":"JA French","year":"2016","unstructured":"French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN (2016) Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet 388:2153\u20132163","journal-title":"Lancet"},{"key":"4726_CR18","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.yebeh.2018.05.039","volume":"91","author":"S Schubert-Bast","year":"2019","unstructured":"Schubert-Bast S, Rosenow F, Kleinb KM, Reif PS, Kieslich M, Strzelczyk A (2019) The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: current evidence and future perspectives. Epilepsy Behav 91:94\u201398","journal-title":"Epilepsy Behav"},{"issue":"5","key":"4726_CR19","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1212\/CPJ.0000000000000514","volume":"8","author":"DN Franz","year":"2018","unstructured":"Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Voi M, Fan J, Vaury A, Pelov D, French JA (2018) Everolimus for treatment-refractory seizures in TSC: extension of a randomized controlled trial. Neurol Clin Pract 8(5):412\u2013420","journal-title":"Neurol Clin Pract"},{"issue":"4","key":"4726_CR20","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1002\/humu.20227","volume":"26","author":"DN Rendtorff","year":"2005","unstructured":"Rendtorff DN, Bjerregaard B, Frodin M, Kjaergaard S, Hove H, Skovby F, The Danish Tuberous Sclerosis Group, Br\u00f8ndum-Nielsen K, Schwartz M (2005) Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1\/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat 26(4):374\u2013383","journal-title":"Hum Mutat"},{"key":"4726_CR21","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1002\/pd.55","volume":"21","author":"P B\u00e9nit","year":"2001","unstructured":"B\u00e9nit P, Bonnefont JP, Mostefa AK, Francannet C, Munnich A, Ray PF (2001) Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn 21:279\u2013283","journal-title":"Prenat Diagn"},{"key":"4726_CR22","first-page":"218","volume":"182","author":"AM Treichel","year":"2020","unstructured":"Treichel AM, Kwiatkowski DJ, Moss J, Darling TN (2020) A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol 182:218\u2013250","journal-title":"Br J Dermatol"},{"key":"4726_CR23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2147\/TACG.S90262","volume":"10","author":"C Caban","year":"2017","unstructured":"Caban C, Khan N, Hasbani DM, Crino PB (2017) Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet 10:1\u20138","journal-title":"Appl Clin Genet"}],"container-title":["Child's Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-020-04726-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00381-020-04726-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-020-04726-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T23:40:40Z","timestamp":1628206840000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00381-020-04726-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,6]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["4726"],"URL":"https:\/\/doi.org\/10.1007\/s00381-020-04726-z","relation":{},"ISSN":["0256-7040","1433-0350"],"issn-type":[{"value":"0256-7040","type":"print"},{"value":"1433-0350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,6]]},"assertion":[{"value":"21 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 June 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"No conflict of interest","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Not applicable","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}