{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:11:39Z","timestamp":1787062299939,"version":"build-2736575974"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T00:00:00Z","timestamp":1529452800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Children\u2019s Mercy Hospitals Kansas City"},{"name":"Marion Merrell Dow Foundation"},{"name":"Pat and Gil Clements Foundation"},{"name":"Claire Giannini Foundation"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1007\/s10048-018-0551-y","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T02:06:38Z","timestamp":1529460398000},"page":"205-213","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings"],"prefix":"10.1007","volume":"19","author":[{"given":"R. C.","family":"Caylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Grote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Thiffault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. G.","family":"Farrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Willig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Soden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. M.","family":"Amudhavalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. J.","family":"Nopper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. A.","family":"Horii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Fleming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Jenkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Welsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ilyas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Engleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Abdelmoity","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. J.","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,6,20]]},"reference":[{"key":"551_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 JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615:125\u2013127","journal-title":"Ann N Y Acad Sci"},{"issue":"1","key":"551_CR2","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/S0022-5347(01)63072-6","volume":"160","author":"DH Ewalt","year":"1998","unstructured":"Ewalt DH, Sheffield E, Sparagana SP, Delgado MR, Roach ES (1998) Renal lesion growth in children with tuberous sclerosis complex. J Urol 160(1):141\u2013145","journal-title":"J Urol"},{"issue":"12","key":"551_CR3","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1177\/0883073807307093","volume":"22","author":"DA Lyczkowski","year":"2007","unstructured":"Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA (2007) Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol 22(12):1348\u20131355. \n                    https:\/\/doi.org\/10.1177\/0883073807307093","journal-title":"J Child Neurol"},{"issue":"5","key":"551_CR4","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1212\/01.WNL.0000113745.58425.EF","volume":"62","author":"A Humphrey","year":"2004","unstructured":"Humphrey A, Higgins JN, Yates JR, Bolton PF (2004) Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology 62(5):795\u2013798","journal-title":"Neurology"},{"issue":"9639","key":"551_CR5","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","volume":"372","author":"P Curatolo","year":"2008","unstructured":"Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657\u2013668. \n                    https:\/\/doi.org\/10.1016\/S0140-6736(08)61279-9","journal-title":"Lancet"},{"key":"551_CR6","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. \n                    https:\/\/doi.org\/10.2147\/TACG.S90262","journal-title":"Appl Clin Genet"},{"issue":"4","key":"551_CR7","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, International Tuberous Sclerosis Complex Consensus G (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):243\u2013254. \n                    https:\/\/doi.org\/10.1016\/j.pediatrneurol.2013.08.001","journal-title":"Pediatr Neurol"},{"issue":"4","key":"551_CR8","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, International Tuberous Sclerosis Complex Consensus G (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):255\u2013265. \n                    https:\/\/doi.org\/10.1016\/j.pediatrneurol.2013.08.002","journal-title":"Pediatr Neurol"},{"issue":"154","key":"551_CR9","doi-asserted-by":"publisher","first-page":"154ra135","DOI":"10.1126\/scitranslmed.3004041","volume":"4","author":"CJ Saunders","year":"2012","unstructured":"Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 4(154):154ra135. \n                    https:\/\/doi.org\/10.1126\/scitranslmed.3004041","journal-title":"Sci Transl Med"},{"issue":"265","key":"551_CR10","doi-asserted-by":"publisher","first-page":"265ra168","DOI":"10.1126\/scitranslmed.3010076","volume":"6","author":"SE Soden","year":"2014","unstructured":"Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF (2014) Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 6(265):265ra168. \n                    https:\/\/doi.org\/10.1126\/scitranslmed.3010076","journal-title":"Sci Transl Med"},{"issue":"1","key":"551_CR11","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1053\/ejpn.2001.0538","volume":"6","author":"P Curatolo","year":"2002","unstructured":"Curatolo P, Verdecchia M, Bombardieri R (2002) Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 6(1):15\u201323. \n                    https:\/\/doi.org\/10.1053\/ejpn.2001.0538","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"551_CR12","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, Netto CBO, Ashton-Prolla P (2017) TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review. Genet Mol Biol 40(1):69\u201379. \n                    https:\/\/doi.org\/10.1590\/1678-4685-GMB-2015-0321","journal-title":"Genet Mol Biol"},{"issue":"1","key":"551_CR13","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s13023-016-0553-5","volume":"12","author":"JC Kingswood","year":"2017","unstructured":"Kingswood JC, d\u2019Augeres GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O\u2019Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Consortium T, Investigators T (2017) TuberOus SClerosis registry to increase disease Awareness (TOSCA)\u2014baseline data on 2093 patients. Orphanet J Rare Dis 12(1):2. \n                    https:\/\/doi.org\/10.1186\/s13023-016-0553-5","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"551_CR14","doi-asserted-by":"publisher","first-page":"e20164040","DOI":"10.1542\/peds.2016-4040","volume":"140","author":"PE Davis","year":"2017","unstructured":"Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M, Tuberous Sclerosis Complex Autism Center of Excellence Research N (2017) Presentation and diagnosis of tuberous sclerosis complex in infants. Pediatrics 140(6):e20164040. \n                    https:\/\/doi.org\/10.1542\/peds.2016-4040","journal-title":"Pediatrics"},{"issue":"7","key":"551_CR15","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, Moavero R, de Vries PJ (2015) Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 14(7):733\u2013745. \n                    https:\/\/doi.org\/10.1016\/s1474-4422(15)00069-1","journal-title":"Lancet Neurol"},{"issue":"7","key":"551_CR16","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 CJ, Major P, Camposano S, Muzykewicz D, Thiele EA (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 51(7):1236\u20131241. \n                    https:\/\/doi.org\/10.1111\/j.1528-1167.2009.02474.x","journal-title":"Epilepsia"},{"key":"551_CR17","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.urology.2017.02.036","volume":"104","author":"E Swallow","year":"2017","unstructured":"Swallow E, King S, Song J, Peeples M, Signorovitch JE, Liu Z, Prestifilippo J, Frost M, Kohrman M, Korf B, Krueger D, Sparagana S (2017) Patterns of disease monitoring and treatment among patients with tuberous sclerosis complex-related angiomyolipomas. Urology 104:110\u2013114. \n                    https:\/\/doi.org\/10.1016\/j.urology.2017.02.036","journal-title":"Urology"},{"issue":"3","key":"551_CR18","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1002\/ajmg.a.38027","volume":"173","author":"J Fox","year":"2017","unstructured":"Fox J, Ben-Shachar S, Uliel S, Svirsky R, Saitsu H, Matsumoto N, Fattal-Valevski A (2017) Rare familial TSC2 gene mutation associated with atypical phenotype presentation of tuberous sclerosis complex. Am J Med Genet A 173(3):744\u2013748. \n                    https:\/\/doi.org\/10.1002\/ajmg.a.38027","journal-title":"Am J Med Genet A"},{"key":"551_CR19","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.ebcr.2015.08.002","volume":"4","author":"H Nakano","year":"2015","unstructured":"Nakano H, Otsuka A, Kinoshita M (2015) A subtle case of tuberous sclerosis complex. Epilepsy Behav Case Rep 4:88\u201390. \n                    https:\/\/doi.org\/10.1016\/j.ebcr.2015.08.002","journal-title":"Epilepsy Behav Case Rep"},{"key":"551_CR20","doi-asserted-by":"publisher","first-page":"bcr2013009969","DOI":"10.1136\/bcr-2013-009969","volume":"2013","author":"MA Gosein","year":"2013","unstructured":"Gosein MA, Ameeral A, Konduru SK, Dola VN (2013) Tuberous sclerosis presenting with spontaneous pneumothorax secondary to lymphangioleiomyomatosis; previously mistaken for asthma. BMJ Case Rep 2013:bcr2013009969. \n                    https:\/\/doi.org\/10.1136\/bcr-2013-009969","journal-title":"BMJ Case Rep"},{"issue":"Pt 20","key":"551_CR21","doi-asserted-by":"publisher","first-page":"3589","DOI":"10.1242\/jcs.051011","volume":"122","author":"M Laplante","year":"2009","unstructured":"Laplante M, Sabatini DM (2009) mTOR signaling at a glance. J Cell Sci 122(Pt 20):3589\u20133594. \n                    https:\/\/doi.org\/10.1242\/jcs.051011","journal-title":"J Cell Sci"},{"issue":"5","key":"551_CR22","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1097\/00007611-200405000-00019","volume":"97","author":"C Caprez","year":"2004","unstructured":"Caprez C, Walling AD, Reimer CM (2004) Tuberous sclerosis complex in a young woman diagnosed incidentally on the basis of pregnancy ultrasonography. South Med J 97(5):512\u2013515","journal-title":"South Med J"},{"issue":"2","key":"551_CR23","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/gim.2016.190","volume":"19","author":"SS Kalia","year":"2017","unstructured":"Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 19(2):249\u2013255. \n                    https:\/\/doi.org\/10.1038\/gim.2016.190","journal-title":"Genet Med"},{"issue":"9","key":"551_CR24","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1111\/epi.13467","volume":"57","author":"A Jeong","year":"2016","unstructured":"Jeong A, Wong M (2016) Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex. Epilepsia 57(9):1443\u20131449. \n                    https:\/\/doi.org\/10.1111\/epi.13467","journal-title":"Epilepsia"}],"updated-by":[{"DOI":"10.1007\/s10048-018-0554-8","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2018,7,11]],"date-time":"2018-07-11T00:00:00Z","timestamp":1531267200000}}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-018-0551-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-018-0551-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-018-0551-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T19:12:17Z","timestamp":1560971537000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-018-0551-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,20]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["551"],"URL":"https:\/\/doi.org\/10.1007\/s10048-018-0551-y","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,20]]},"assertion":[{"value":"10 May 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 June 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 June 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 July 2018","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The published online version contain mistake in the author list. Instead of \"A.M.Ilyas\" it should have been \"M.Ilyas \".","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Written informed consent of participation was obtained from the participants. A copy of the written consent is available for review by the Editor of this journal. Approval of case reports is waived by the Institutional Review Board.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish this case series was given by the patients and their legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}