{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:38:58Z","timestamp":1791088738079,"version":"4.1.0"},"reference-count":40,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T00:00:00Z","timestamp":1093996800000},"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":[[2004,9]]},"abstract":"<jats:p>\n                    Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (\n                    <jats:italic toggle=\"yes\">TSC1<\/jats:italic>\n                    ) and 16p13 (\n                    <jats:italic toggle=\"yes\">TSC2<\/jats:italic>\n                    ). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The variable expression of severity, the potential for cognitive dysfunction, and epilepsy compound the clinical picture. The intracranial abnormalities include the identification of migration and hamartomatous brain lesions, such as tubers, subependymal nodules, and subependymal giant cell astrocytomas. A number of other neuroimaging and morphometric abnormalities coexist, which can be identified with current neuroimaging techniques. This review examines the spectrum of brain abnormalities encountered in tuberous sclerosis complex and presents them as not merely a collection of lesions but more cohesively in the context of a global neuronal migration disorder. (\n                    <jats:italic toggle=\"yes\">J Child Neurol<\/jats:italic>\n                    2004;19:650\u2014657).\n                  <\/jats:p>","DOI":"10.1177\/08830738040190090401","type":"journal-article","created":{"date-parts":[[2017,7,9]],"date-time":"2017-07-09T13:37:00Z","timestamp":1499607420000},"page":"650-657","source":"Crossref","is-referenced-by-count":136,"title":["Brain Abnormalities in Tuberous Sclerosis Complex"],"prefix":"10.1177","volume":"19","author":[{"suffix":"JR","given":"Francis J.","family":"DiMario","sequence":"first","affiliation":[{"name":"University of Connecticut School of Medicine, Farmington, CT, , Department of Pediatrics, Division of Pediatric Neurology, at Connecticut Children's Medical Center, Hartford, CT"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2004,9]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1991.tb37754.x"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.5.662"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389801301206"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"e_1_2_1_7_1","first-page":"289","article-title":"The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho","volume":"2","author":"Lamb RF","year":"2000","unstructured":"Lamb RF, Roy C., Dienfenbach TJ, et al: The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2000;2:289\u2014287.","journal-title":"Nat Cell Biol"},{"key":"e_1_2_1_8_1","first-page":"345","article-title":"Molecular genetic advances in tuberous sclerosis","volume":"62","author":"Cheadle J.","year":"2002","unstructured":"Cheadle J., Reeve M., Samson J., Kwaitkowski D.: Molecular genetic advances in tuberous sclerosis. Hum Genet 2002;62:345\u2014357.","journal-title":"Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.2.5.446"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620501.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.7.1384"},{"key":"e_1_2_1_12_1","first-page":"561","article-title":"TSC2 null murine neuroepithelial cells are a model for human tuber giant cells and show activation of an mTOR pathway. Mol Cell","volume":"21","author":"Onda H.","year":"2002","unstructured":"Onda H., Crino P., Zhang H., et al: TSC2 null murine neuroepithelial cells are a model for human tuber giant cells and show activation of an mTOR pathway. Mol Cell Neurol Sci 2002;21: 561\u2014574.","journal-title":"Neurol Sci"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195122107.001.0001","volume-title":"The Tuberous Sclerosis Complex. Oxford, UK","author":"Gomez M","year":"1999","unstructured":"Gomez M, Sampson J, Whittemore VH (eds): The Tuberous Sclerosis Complex. Oxford, UK, Oxford University Press, 1999."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973708"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10637"},{"key":"e_1_2_1_16_1","first-page":"81","article-title":"Sclerose tubereuse des circonvolutions cerebrales: Idiotie et epilepsie hemiplegique","author":"Bourneville D-M.","year":"1880","unstructured":"Bourneville D-M.: Sclerose tubereuse des circonvolutions cerebrales: Idiotie et epilepsie hemiplegique. Arch Neurol (Paris) 1880;81\u201491.","journal-title":"Arch Neurol"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389701200203"},{"key":"e_1_2_1_18_1","first-page":"149","article-title":"MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment","volume":"16","author":"Shepherd CW","year":"1995","unstructured":"Shepherd CW , Houser OW, Gomez MR: MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. AJNR Am J Neuroradiol 1995;16:149\u2014155.","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(98)00022-9"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(00)00186-8"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1053\/seiz.2001.0650"},{"key":"e_1_2_1_22_1","first-page":"1029","article-title":"MR and CT of tuberous sclerosis: Linear abnormalities in the cerebral white matter","volume":"11","author":"Iwasaki S.","year":"1990","unstructured":"Iwasaki S., Nakagawa H., Kichikawa K., et al: MR and CT of tuberous sclerosis: Linear abnormalities in the cerebral white matter. AJNR Am J Neuroradiol 1990;11:1029\u20141034.","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738020170101601"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00318-6"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700905"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050573"},{"key":"e_1_2_1_27_1","first-page":"345","article-title":"Tuberous sclerosis with moya moya disease. Case report","volume":"28","author":"Imaizumi M.","year":"1978","unstructured":"Imaizumi M. , Nukala T., Yoneda S., et al: Tuberous sclerosis with moya moya disease. Case report. Med J Osaka Univ 1978 ;28: 345\u2014353.","journal-title":"Med J Osaka Univ"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-6111(97)00042-6"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389501000514"},{"issue":"9","key":"e_1_2_1_30_1","first-page":"10","article-title":"Epilepsy and cortical cytoarchitectonic abnormalities: An attempt at correlating basic mechanisms with anatomo-clinical syndromes","author":"Palmini A.","year":"1992","unstructured":"Palmini A., Amdermann F., Tampieri D., et al: Epilepsy and cortical cytoarchitectonic abnormalities: An attempt at correlating basic mechanisms with anatomo-clinical syndromes. Epilepsy Res 1992;Suppl 9:10\u201418.","journal-title":"Epilepsy Res"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(98)00036-9"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1263"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000044053.09023.91"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620501.x"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10283"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205435"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190091301"},{"key":"e_1_2_1_39_1","first-page":"221A","article-title":"Brain morphometry in tuberous sclerosis complex","volume":"49","author":"Yorns W.","year":"2001","unstructured":"Yorns W., Burleson JA, DiMario FJ: Brain morphometry in tuberous sclerosis complex. J Invest Med 2001;49:221A.","journal-title":"J Invest Med"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291701004561"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738040190090401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738040190090401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:48Z","timestamp":1777494948000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738040190090401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["10.1177\/08830738040190090401"],"URL":"https:\/\/doi.org\/10.1177\/08830738040190090401","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9]]}}}