{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T15:20:48Z","timestamp":1781191248905,"version":"3.54.1"},"reference-count":52,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2007,12,1]],"date-time":"2007-12-01T00:00:00Z","timestamp":1196467200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:p>Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, particularly between the monozygotic twins, and IQ was inversely related to tuber count. Cutaneous, renal, and cardiac findings did not appear to cluster within families. Although the monozygotic twins displayed similar physical manifestations of tuberous sclerosis complex (renal and cardiac hamartomas), they differed markedly in neurocognitive profiles. Phenotypic variation within these families may be explained largely as a function of the randomness of second-hit events that cause hamartomas in tuberous sclerosis complex or by as-yet-unidentified genetic modifiers. Familial variation in tuberous sclerosis complex phenotype has important implications for genetic counseling.<\/jats:p>","DOI":"10.1177\/0883073807307093","type":"journal-article","created":{"date-parts":[[2008,1,3]],"date-time":"2008-01-03T17:59:02Z","timestamp":1199383142000},"page":"1348-1355","source":"Crossref","is-referenced-by-count":43,"title":["Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex"],"prefix":"10.1177","volume":"22","author":[{"given":"David A.","family":"Lyczkowski","sequence":"first","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry D.","family":"Conant","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret B.","family":"Pulsifer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Massachusetts General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delma Y.","family":"Jarrett","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Ellen","family":"Grant","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Kwiatkowski","sequence":"additional","affiliation":[{"name":"Genetics Laboratory Division of Translational Medicine, Brigham and Women's Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Thiele","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2007,12,1]]},"reference":[{"key":"atypb1","unstructured":"Curatolo P. Diagnostic criteria. In: Curatolo P, ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes . London: Mac Keith Press; 2003:11-25."},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190090301"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1086\/302381"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201402"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra055323"},{"key":"atypb7","volume-title":"Bayley Scales of Infant Development","author":"Bayley N.","year":"1993","edition":"2"},{"key":"atypb8","volume-title":"Stanford-Binet Intelligence Scale","author":"Roid GH","year":"2003","edition":"5"},{"key":"atypb9","volume-title":"Wechsler Preschool and Primary Scale of Intelligence","author":"Wechsler D.","year":"2002","edition":"3"},{"key":"atypb10","volume-title":"Wechsler Abbreviated Scale of Intelligence","author":"Wechsler D.","year":"1999"},{"key":"atypb11","volume-title":"Peabody Picture Vocabulary Test","author":"Dunn L.","year":"1997","edition":"3"},{"key":"atypb12","volume-title":"Expressive One Word Picture Vocabulary Test Manual","author":"Brownell R.","year":"2000","edition":"3"},{"key":"atypb13","volume-title":"The Beery-Buktencia Developmental Test of Visual-Motor Integration","author":"Beery KE","year":"2004","edition":"5"},{"key":"atypb14","first-page":"151","volume":"30","author":"Osterrieth PA","year":"1944","journal-title":"Arch Psychol."},{"key":"atypb15","volume-title":"A Compendium of Neuropsychological Tests: Administration, Norms, and Commentary","author":"Spreen O.","year":"1998","edition":"2"},{"key":"atypb16","volume-title":"Wechsler Intelligence Scale for Children","author":"Wechsler D.","year":"2003","edition":"4"},{"key":"atypb17","volume-title":"Adult Intelligence Scale","author":"Wechsler D. Wechsler","year":"1997","edition":"3"},{"key":"atypb18","volume-title":"Wechsler Memory Scale","author":"Wechsler D.","year":"1997","edition":"3"},{"key":"atypb19","volume-title":"Wide Range Assessment of Memory and Learning","author":"Adams W.","year":"1990"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/S0093-934X(75)80070-8"},{"key":"atypb21","volume-title":"Behavior Assessment System for Children","author":"Kamphaus RW","year":"1998"},{"key":"atypb22","volume-title":"Symptom Checklist-90-Revised","author":"Derogatis LR","year":"1975"},{"key":"atypb23","doi-asserted-by":"publisher","DOI":"10.1038\/scientificamerican0998-66"},{"key":"atypb24","volume-title":"Manual for the Child Behavior Checklist\/4\u201418 and 1991 Profile","author":"Achenbach TM","year":"1991"},{"key":"atypb25","volume-title":"Manual for the Child Behavior Checklist\/2\u20143 and 1992 Profile","author":"Achenbach TM","year":"1992"},{"key":"atypb26","volume-title":"Child Symptom Inventory 4","author":"Gadow KD","year":"2002"},{"key":"atypb27","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000142039.14522.1A"},{"key":"atypb28","doi-asserted-by":"crossref","unstructured":"Gomez MR Natural history of cerebral tuberous sclerosis. In: Gomez MR, Sampson JR , Whittemore VH, eds. Tuberous Sclerosis Complex: Developmental Perspectives in Psychiatry. 3rd ed. New York, NY: Oxford University Press; 1999:29-46.","DOI":"10.1093\/oso\/9780195122107.003.0004"},{"key":"atypb29","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291702007092"},{"key":"atypb30","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250330.44291.54"},{"key":"atypb31","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1991.tb14947.x"},{"key":"atypb32","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190090601"},{"key":"atypb33","first-page":"S51","volume":"4","author":"de Vries PJ","year":"1999","journal-title":"Mol Psychiatry"},{"key":"atypb34","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1994.tb11765.x"},{"key":"atypb35","first-page":"1","volume":"71","author":"Borberg A.","year":"1951","journal-title":"Acta Psychiatr Neurol Scand Suppl."},{"key":"atypb36","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.32.6.591"},{"key":"atypb37","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(80)80031-3"},{"key":"atypb38","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1983.03330340044029"},{"key":"atypb39","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.5.347"},{"key":"atypb40","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000073272.47681.BB"},{"key":"atypb41","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21037"},{"key":"atypb42","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/57.3.227"},{"key":"atypb43","first-page":"195","volume":"19","author":"Primrose DA","year":"1975","journal-title":"J Ment Defic Res."},{"issue":"33","key":"atypb44","first-page":"27","author":"Lesa de Puszk\u00edn AME","year":"1975","journal-title":"Rev Fac Cienc Med Cordoba"},{"key":"atypb45","first-page":"12","volume":"10","author":"Paillas JE","year":"1947","journal-title":"Med."},{"key":"atypb46","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.6.604"},{"key":"atypb47","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000113745.58425.EF"},{"key":"atypb48","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190090401"},{"key":"atypb49","doi-asserted-by":"publisher","DOI":"10.1086\/321972"},{"key":"atypb50","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190091301"},{"key":"atypb51","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60586-7"},{"key":"atypb52","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100505"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807307093","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807307093","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:33:34Z","timestamp":1777494814000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073807307093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12]]},"references-count":52,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1177\/0883073807307093"],"URL":"https:\/\/doi.org\/10.1177\/0883073807307093","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12]]}}}