메뉴 건너뛰기




Volumn 24, Issue 3, 2009, Pages 333-337

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene

Author keywords

Leptomeningeal angiomatosis; Sturge Weber syndrome; Tuberous sclerosis complex; Vertigo

Indexed keywords

TUBERIN;

EID: 62149102931     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808323021     Document Type: Article
Times cited : (4)

References (20)
  • 1
    • 33749068243 scopus 로고    scopus 로고
    • Tuberous sclerosis
    • Yates JR Tuberous sclerosis. Eur J Hum Genet. 2006; 14: 1065-1073.
    • (2006) Eur J Hum Genet , vol.14 , pp. 1065-1073
    • Yates, J.R.1
  • 2
    • 8844236164 scopus 로고    scopus 로고
    • Non-neurologic manifestations of tuberous sclerosis complex
    • Franz DN Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004; 19: 690-698.
    • (2004) J Child Neurol. , vol.19 , pp. 690-698
    • Franz, D.N.1
  • 3
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical criteria
    • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical 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
  • 4
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chrome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium
    • European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chrome 16. Cell. 1993; 75: 1305-1315.
    • (1993) Cell , vol.75 , pp. 1305-1315
  • 5
    • 0030879277 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
    • Van Slegtenhorst M., de Hoogt R., Hermans C., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997; 277: 805-808.
    • (1997) Science , vol.277 , pp. 805-808
    • Van Slegtenhorst, M.1    de Hoogt, R.2    Hermans, C.3
  • 7
    • 0033365408 scopus 로고    scopus 로고
    • Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis
    • Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet. 1999; 64: 1305-1315.
    • (1999) Am J Hum Genet. , vol.64 , pp. 1305-1315
    • Jones, A.C.1    Shyamsundar, M.M.2    Thomas, M.W.3
  • 8
    • 0036302340 scopus 로고    scopus 로고
    • TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
    • Langkau N., Martin N., Brandt R., et al. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios. Eur J Pediatr. 2002; 161: 393-402.
    • (2002) Eur J Pediatr. , vol.161 , pp. 393-402
    • Langkau, N.1    Martin, N.2    Brandt, R.3
  • 9
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • Jones AC, Daniells CE, Snell RG, et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet. 1997; 6: 2155-2161.
    • (1997) Hum Mol Genet. , vol.6 , pp. 2155-2161
    • Jones, A.C.1    Daniells, C.E.2    Snell, R.G.3
  • 10
    • 0035167932 scopus 로고    scopus 로고
    • Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of disease in multiple organs in TSC2, compared to TSC1
    • Dabora SL, Joswiak S., Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of disease in multiple organs in TSC2, compared to TSC1. Am J Hum Genet. 2001; 68: 64-80.
    • (2001) Am J Hum Genet. , vol.68 , pp. 64-80
    • Dabora, S.L.1    Joswiak, S.2    Franz, D.N.3
  • 12
    • 12344300449 scopus 로고    scopus 로고
    • Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus
    • Taddeucci G., Bonucelli A., Polacco P. Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus. Pediatr Neurol. 2005; 32: 131-133.
    • (2005) Pediatr Neurol. , vol.32 , pp. 131-133
    • Taddeucci, G.1    Bonucelli, A.2    Polacco, P.3
  • 13
    • 8844247121 scopus 로고    scopus 로고
    • Brain abnormalities in tuberous sclerosis complex
    • DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004; 19: 650-657.
    • (2004) J Child Neurol. , vol.19 , pp. 650-657
    • DiMario Jr., F.J.1
  • 14
    • 0030660617 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: The role of neuroradiology
    • Griffiths PD, Martland TR Tuberous sclerosis complex: The role of neuroradiology. Neuropediatrics. 1997; 28: 224-252.
    • (1997) Neuropediatrics , vol.28 , pp. 224-252
    • Griffiths, P.D.1    Martland, T.R.2
  • 15
    • 0028821190 scopus 로고
    • MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment
    • Shepherd CW, Houser OW, Gomez MR MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. Am J Neuroradiol. 1995; 16: 149-155.
    • (1995) Am J Neuroradiol. , vol.16 , pp. 149-155
    • Shepherd, C.W.1    Houser, O.W.2    Gomez, M.R.3
  • 16
    • 16344364736 scopus 로고    scopus 로고
    • Leptomeningeal enhancement and enlarged choroid plexus simulating the appearance of Sturge-Weber disease in a child with tuberous sclerosis
    • Kremer S., Schmitt E., Klein O., et al. Leptomeningeal enhancement and enlarged choroid plexus simulating the appearance of Sturge-Weber disease in a child with tuberous sclerosis. Epilepsia. 2005; 46: 595-596.
    • (2005) Epilepsia , vol.46 , pp. 595-596
    • Kremer, S.1    Schmitt, E.2    Klein, O.3
  • 17
    • 0035660247 scopus 로고    scopus 로고
    • TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
    • Nellist M., Verhaaf B., Goedbloed MA, et al. TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. Hum Mol Genet. 2001; 10: 2889-2898.
    • (2001) Hum Mol Genet. , vol.10 , pp. 2889-2898
    • Nellist, M.1    Verhaaf, B.2    Goedbloed, M.A.3
  • 18
    • 0030828764 scopus 로고    scopus 로고
    • The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
    • Maheshwar MM, Cheadle JP, Jones AC, et al. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet. 1997; 6: 1991-1996.
    • (1997) Hum Mol Genet. , vol.6 , pp. 1991-1996
    • Maheshwar, M.M.1    Cheadle, J.P.2    Jones, A.C.3
  • 19
    • 3042850661 scopus 로고    scopus 로고
    • Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
    • Mayer K., Goedbloed M., van Zijl K., Nellist M., Rott HD Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis. J Med Genet. 2004; 41: E64.
    • (2004) J Med Genet. , vol.41
    • Mayer, K.1    Goedbloed, M.2    van Zijl, K.3    Nellist, M.4    Rott, H.D.5
  • 20
    • 0032989136 scopus 로고    scopus 로고
    • Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation. National Tuberous Sclerosis Association
    • Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 1999; 14: 401-407.
    • (1999) J Child Neurol. , vol.14 , pp. 401-407
    • Roach, E.S.1    DiMario, F.J.2    Kandt, R.S.3    Northrup, H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.