메뉴 건너뛰기




Volumn 111, Issue , 2013, Pages 323-331

Tuberous sclerosis

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84876808744     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52891-9.00038-5     Document Type: Chapter
Times cited : (59)

References (51)
  • 1
    • 75349112539 scopus 로고    scopus 로고
    • Early control of seizures improves long-term outcome in tuberous sclerosis complex
    • Bombardieri R., Pinci M., Moavero R., et al. Early control of seizures improves long-term outcome in tuberous sclerosis complex. Eur J Paediatr Neurol 2010, 14:146-149.
    • (2010) Eur J Paediatr Neurol , vol.14 , pp. 146-149
    • Bombardieri, R.1    Pinci, M.2    Moavero, R.3
  • 2
    • 0028946538 scopus 로고
    • Sleep disorders in tuberous sclerosis: a polysomnographic study
    • Bruni O., Cortesi F., Giannotti F., et al. Sleep disorders in tuberous sclerosis: a polysomnographic study. Brain Dev 1995, 17:52-56.
    • (1995) Brain Dev , vol.17 , pp. 52-56
    • Bruni, O.1    Cortesi, F.2    Giannotti, F.3
  • 3
    • 27144467085 scopus 로고    scopus 로고
    • Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia
    • Calcagnotto M.E., Paredes M.F., Tihan T., et al. Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia. J Neurosci 2005, 25:9649-9657.
    • (2005) J Neurosci , vol.25 , pp. 9649-9657
    • Calcagnotto, M.E.1    Paredes, M.F.2    Tihan, T.3
  • 4
    • 0025017671 scopus 로고
    • Vigabatrin in infantile spasms
    • Chiron C., Dulac O., Luna D., et al. Vigabatrin in infantile spasms. Lancet 1990, 335:363-367.
    • (1990) Lancet , vol.335 , pp. 363-367
    • Chiron, C.1    Dulac, O.2    Luna, D.3
  • 5
    • 0031736092 scopus 로고    scopus 로고
    • Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography
    • Chugani D.C., Chugani H.T., Muzik O., et al. Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography. Ann Neurol 1998, 44:858-866.
    • (1998) Ann Neurol , vol.44 , pp. 858-866
    • Chugani, D.C.1    Chugani, H.T.2    Muzik, O.3
  • 6
    • 8844224854 scopus 로고    scopus 로고
    • Molecular pathogenesis of tuber formation in tuberous sclerosis complex
    • Crino P.B. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol 2004, 19:716-725.
    • (2004) J Child Neurol , vol.19 , pp. 716-725
    • Crino, P.B.1
  • 11
    • 64449086807 scopus 로고    scopus 로고
    • Neuroimaging findings of Sturge-Weber syndrome in a child with tuberous sclerosis
    • Curatolo P., Lo-Castro A., Pinci M., et al. Neuroimaging findings of Sturge-Weber syndrome in a child with tuberous sclerosis. Brain Dev 2009, 31:352-355.
    • (2009) Brain Dev , vol.31 , pp. 352-355
    • Curatolo, P.1    Lo-Castro, A.2    Pinci, M.3
  • 12
    • 0025613368 scopus 로고
    • Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis
    • Cusmai R., Chiron C., Curatolo P., et al. Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis. Epilepsia 1990, 31:747-755.
    • (1990) Epilepsia , vol.31 , pp. 747-755
    • Cusmai, R.1    Chiron, C.2    Curatolo, P.3
  • 13
    • 74949121901 scopus 로고    scopus 로고
    • Attention deficit hyperactivity disorder (ADHD) and tuberous sclerosis
    • d'Agati E., Moavero R., Cerminara C., et al. Attention deficit hyperactivity disorder (ADHD) and tuberous sclerosis. J Child Neurol 2009, 24:1282-1287.
    • (2009) J Child Neurol , vol.24 , pp. 1282-1287
    • d'Agati, E.1    Moavero, R.2    Cerminara, C.3
  • 14
    • 0035167932 scopus 로고    scopus 로고
    • Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
    • Dabora S.L., Jozwiak S., Franz D.N., 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 2001, 68:64-80.
    • (2001) Am J Hum Genet , vol.68 , pp. 64-80
    • Dabora, S.L.1    Jozwiak, S.2    Franz, D.N.3
  • 15
    • 21244504231 scopus 로고    scopus 로고
    • Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis
    • De Vries P., Humphrey A., McCartney D., et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry 2005, 14:183-190.
    • (2005) Eur Child Adolesc Psychiatry , vol.14 , pp. 183-190
    • De Vries, P.1    Humphrey, A.2    McCartney, D.3
  • 16
    • 34247529566 scopus 로고    scopus 로고
    • The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families
    • De Vries P.J., Hunt A., Bolton P.F. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families. Eur Child Adolesc Psychiatry 2007, 16:16-24.
    • (2007) Eur Child Adolesc Psychiatry , vol.16 , pp. 16-24
    • De Vries, P.J.1    Hunt, A.2    Bolton, P.F.3
  • 17
    • 8844247121 scopus 로고    scopus 로고
    • Brain abnormalities in tuberous sclerosis complex
    • DiMario F.J. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 2004, 19:650-657.
    • (2004) J Child Neurol , vol.19 , pp. 650-657
    • DiMario, F.J.1
  • 18
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    • Ehninger D., Han S., Shilyansky, et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 2008, 14:843-848.
    • (2008) Nat Med , vol.14 , pp. 843-848
    • Ehninger, D.1    Han, S.2    Shilyansky3
  • 19
    • 33644827461 scopus 로고    scopus 로고
    • Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
    • Franz D.N., Leonard J., Tudor C., et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006, 59:490-498.
    • (2006) Ann Neurol , vol.59 , pp. 490-498
    • Franz, D.N.1    Leonard, J.2    Tudor, C.3
  • 20
    • 0038433304 scopus 로고    scopus 로고
    • Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2
    • Garami A., Zwartkruis F.J., Nobukuni T., et al. Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol Cell 2003, 11:1457-1466.
    • (2003) Mol Cell , vol.11 , pp. 1457-1466
    • Garami, A.1    Zwartkruis, F.J.2    Nobukuni, T.3
  • 21
    • 7044245656 scopus 로고    scopus 로고
    • Subependymal giant cell tumors in tuberous sclerosis complex
    • Goh S., Butler W., Thiele E.A. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 2004, 63:1457-1461.
    • (2004) Neurology , vol.63 , pp. 1457-1461
    • Goh, S.1    Butler, W.2    Thiele, E.A.3
  • 23
    • 0033016102 scopus 로고    scopus 로고
    • Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review
    • Hancock E., Osborne J.P. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol 1999, 14:71-74.
    • (1999) J Child Neurol , vol.14 , pp. 71-74
    • Hancock, E.1    Osborne, J.P.2
  • 24
    • 1542316166 scopus 로고    scopus 로고
    • Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits
    • Humphrey A., Higgins J.N., Yates J.R., et al. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology 2004, 62:795-798.
    • (2004) Neurology , vol.62 , pp. 795-798
    • Humphrey, A.1    Higgins, J.N.2    Yates, J.R.3
  • 25
    • 0033991818 scopus 로고    scopus 로고
    • Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients
    • Jambaque I., Chiron C., Dumas C., et al. Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res 2000, 38:151-160.
    • (2000) Epilepsy Res , vol.38 , pp. 151-160
    • Jambaque, I.1    Chiron, C.2    Dumas, C.3
  • 26
    • 33645019017 scopus 로고    scopus 로고
    • Identification of epileptogenic tubers in patients with tuberous sclerosis complex
    • Jansen F.E., Huiskamp G., van Huffelen A.C., et al. Identification of epileptogenic tubers in patients with tuberous sclerosis complex. Epilepsia 2006, 47:108-114.
    • (2006) Epilepsia , vol.47 , pp. 108-114
    • Jansen, F.E.1    Huiskamp, G.2    van Huffelen, A.C.3
  • 27
    • 33845308278 scopus 로고    scopus 로고
    • Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
    • Jansen A.C., Sancak O., D'Agostino M.D., et al. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 2006, 60:528-539.
    • (2006) Ann Neurol , vol.60 , pp. 528-539
    • Jansen, A.C.1    Sancak, O.2    D'Agostino, M.D.3
  • 28
    • 34547849529 scopus 로고    scopus 로고
    • Epilepsy surgery in tuberous sclerosis: a systematic review
    • Jansen F.E., van Huffelen A.C., Algra A., et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia 2007, 48:1477-1484.
    • (2007) Epilepsia , vol.48 , pp. 1477-1484
    • Jansen, F.E.1    van Huffelen, A.C.2    Algra, A.3
  • 29
    • 41149172302 scopus 로고    scopus 로고
    • Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
    • Jansen F.E., Braams O., Vincken K.L., et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 2008, 70:908-915.
    • (2008) Neurology , vol.70 , pp. 908-915
    • Jansen, F.E.1    Braams, O.2    Vincken, K.L.3
  • 30
    • 12244298162 scopus 로고    scopus 로고
    • Learning disability in an epidemiological sample of individuals with tuberous sclerosis complex
    • Joinson C., O'Callaghan F.J., Osborne J.P., et al. Learning disability in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003, 33:335-344.
    • (2003) Psychol Med , vol.33 , pp. 335-344
    • Joinson, C.1    O'Callaghan, F.J.2    Osborne, J.P.3
  • 31
    • 27944450100 scopus 로고    scopus 로고
    • Hamartin and tuberin: working together for tumour suppression
    • Jozwiak J. Hamartin and tuberin: working together for tumour suppression. Int J Cancer 2006, 118:1-5.
    • (2006) Int J Cancer , vol.118 , pp. 1-5
    • Jozwiak, J.1
  • 32
    • 0035026453 scopus 로고    scopus 로고
    • A novel missense mutation in the GTPase activating protein homology region of TSC in two large families with tuberous sclerosis complex
    • Khare L., Strizheva G.D., Bailey J.N., et al. A novel missense mutation in the GTPase activating protein homology region of TSC in two large families with tuberous sclerosis complex. J Med Genet 2001, 38:347-349.
    • (2001) J Med Genet , vol.38 , pp. 347-349
    • Khare, L.1    Strizheva, G.D.2    Bailey, J.N.3
  • 33
    • 78049510428 scopus 로고    scopus 로고
    • Everolimus for subependymal giant cell astrocytomas in tuberous sclerosis
    • Krueger D.A., Care M.M., Holland K., et al. Everolimus for subependymal giant cell astrocytomas in tuberous sclerosis. N Eng J Med 2010, 363:1801-1811.
    • (2010) N Eng J Med , vol.363 , pp. 1801-1811
    • Krueger, D.A.1    Care, M.M.2    Holland, K.3
  • 34
    • 0036754402 scopus 로고    scopus 로고
    • Characteristics of epilepsy in focal cortical dysplasia in infancy
    • Lortie A., Plouin P., Chiron C., et al. Characteristics of epilepsy in focal cortical dysplasia in infancy. Epilepsy Res 2002, 51:133-145.
    • (2002) Epilepsy Res , vol.51 , pp. 133-145
    • Lortie, A.1    Plouin, P.2    Chiron, C.3
  • 35
    • 45549122258 scopus 로고    scopus 로고
    • Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex
    • Major P., Thiele E.A. Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex. Epilepsy Behav 2008, 13:357-360.
    • (2008) Epilepsy Behav , vol.13 , pp. 357-360
    • Major, P.1    Thiele, E.A.2
  • 36
    • 79960902987 scopus 로고    scopus 로고
    • The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective
    • Moavero R., Pinci M., Bombardieri R., et al. The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. Childs Nerv Syst 2011, 27:1203-1210.
    • (2011) Childs Nerv Syst , vol.27 , pp. 1203-1210
    • Moavero, R.1    Pinci, M.2    Bombardieri, R.3
  • 37
    • 0032941743 scopus 로고    scopus 로고
    • Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis
    • Nabbout R., Santos M., Rolland Y., et al. Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J Neurol Neurosurg Psychiatry 1999, 66:370-375.
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 370-375
    • Nabbout, R.1    Santos, M.2    Rolland, Y.3
  • 38
    • 58249127284 scopus 로고    scopus 로고
    • Recent advances in neurobiology of Tuberous Sclerosis Complex
    • Napolioni V., Moavero R., Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain Dev 2009, 31:104-113.
    • (2009) Brain Dev , vol.31 , pp. 104-113
    • Napolioni, V.1    Moavero, R.2    Curatolo, P.3
  • 39
    • 51449119427 scopus 로고    scopus 로고
    • Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study
    • O'Callaghan F.J., Martyn C.N., Renowden S., et al. Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study. Arch Dis Child 2008, 93:751-754.
    • (2008) Arch Dis Child , vol.93 , pp. 751-754
    • O'Callaghan, F.J.1    Martyn, C.N.2    Renowden, S.3
  • 40
    • 0030742270 scopus 로고    scopus 로고
    • Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study
    • Park S.H., Pepkowitz S.H., Kerfoot C., et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol 1997, 94:180-186.
    • (1997) Acta Neuropathol , vol.94 , pp. 180-186
    • Park, S.H.1    Pepkowitz, S.H.2    Kerfoot, C.3
  • 41
    • 34547143034 scopus 로고    scopus 로고
    • Biological markers of intellectual disability in tuberous sclerosis
    • Raznahan A., Higgins N.P., Griffiths P.D., et al. Biological markers of intellectual disability in tuberous sclerosis. Psychol Med 2007, 37:1293-1304.
    • (2007) Psychol Med , vol.37 , pp. 1293-1304
    • Raznahan, A.1    Higgins, N.P.2    Griffiths, P.D.3
  • 42
    • 33845996155 scopus 로고    scopus 로고
    • Neuroanatomical correlates of memory deficits in tuberous sclerosis complex
    • Ridler K., Suckling J., Higgins N.J., et al. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007, 17:261-271.
    • (2007) Cereb Cortex , vol.17 , pp. 261-271
    • Ridler, K.1    Suckling, J.2    Higgins, N.J.3
  • 43
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: revised diagnostic criteria
    • Roach E.S., Gomez M.R., Northrup H. Tuberous sclerosis complex consensus conference: revised diagnostic criteria. J Child Neurol 1998, 13:624-628.
    • (1998) J Child Neurol , vol.13 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 44
    • 20544431744 scopus 로고    scopus 로고
    • Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
    • Sancak O., Nellist M., Goedbloed M., et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet 2005, 13:731-741.
    • (2005) Eur J Hum Genet , vol.13 , pp. 731-741
    • Sancak, O.1    Nellist, M.2    Goedbloed, M.3
  • 45
    • 0031881408 scopus 로고    scopus 로고
    • Frontal lobe epilepsy associated with tuberous sclerosis: electroencephalographic-magnetic resonance imaging fusioning
    • Seri S., Cerquiglini A., Pisani F., et al. Frontal lobe epilepsy associated with tuberous sclerosis: electroencephalographic-magnetic resonance imaging fusioning. J Child Neurol 1998, 13:33-38.
    • (1998) J Child Neurol , vol.13 , pp. 33-38
    • Seri, S.1    Cerquiglini, A.2    Pisani, F.3
  • 46
    • 0026096189 scopus 로고
    • Causes of death in patients with tuberous sclerosis
    • Shepherd C.W., Gomez M.R., Lie J.T., et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991, 66:792-796.
    • (1991) Mayo Clin Proc , vol.66 , pp. 792-796
    • Shepherd, C.W.1    Gomez, M.R.2    Lie, J.T.3
  • 47
    • 7144255533 scopus 로고    scopus 로고
    • Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
    • Van Slegtenhorst M., Nellist M., Nagelkerken B., et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998, 7:1053-1057.
    • (1998) Hum Mol Genet , vol.7 , pp. 1053-1057
    • Van Slegtenhorst, M.1    Nellist, M.2    Nagelkerken, B.3
  • 48
    • 8844234942 scopus 로고    scopus 로고
    • Epilepsy surgery for children with tuberous sclerosis complex: results of a novel approach
    • Weiner H.L., Carlson C., Ridgway E.B., et al. Epilepsy surgery for children with tuberous sclerosis complex: results of a novel approach. J Child Neurol 2004, 19:687-689.
    • (2004) J Child Neurol , vol.19 , pp. 687-689
    • Weiner, H.L.1    Carlson, C.2    Ridgway, E.B.3
  • 49
    • 0035115120 scopus 로고    scopus 로고
    • Selective alterations of glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers
    • White R., Hua Y., Scheithauer B., et al. Selective alterations of glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers. Ann Neurol 2001, 49:67-78.
    • (2001) Ann Neurol , vol.49 , pp. 67-78
    • White, R.1    Hua, Y.2    Scheithauer, B.3
  • 50
    • 33646684081 scopus 로고    scopus 로고
    • Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex
    • Wu J.Y., Sutherling W.W., Koh S., et al. Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex. Neurology 2006, 66:1270-1272.
    • (2006) Neurology , vol.66 , pp. 1270-1272
    • Wu, J.Y.1    Sutherling, W.W.2    Koh, S.3
  • 51
    • 42949140259 scopus 로고    scopus 로고
    • Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
    • Zeng L.H., Xu L., Gutmann D.H., et al. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 2008, 63:444-453.
    • (2008) Ann Neurol , vol.63 , pp. 444-453
    • Zeng, L.H.1    Xu, L.2    Gutmann, D.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.