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Volumn 55, Issue 7, 2014, Pages 1025-1029

Severity of manifestations in tuberous sclerosis complex in relation to genotype

Author keywords

Epilepsy; TSC mutations; Tuberous sclerosis complex

Indexed keywords

TUBERIN;

EID: 84904403492     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12680     Document Type: Article
Times cited : (85)

References (20)
  • 2
    • 0030064630 scopus 로고    scopus 로고
    • Morbidity associated with tuberous sclerosis: A population study
    • Webb DW, Fryer AE, Osborne JP,. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996; 38: 146-155.
    • (1996) Dev Med Child Neurol , vol.38 , pp. 146-155
    • Webb, D.W.1    Fryer, A.E.2    Osborne, J.P.3
  • 3
    • 33745124709 scopus 로고    scopus 로고
    • Study of the relationship between tuberous sclerosis complex and autistic disorder
    • Wong V,. Study of the relationship between tuberous sclerosis complex and autistic disorder. J Child Neurol 2006; 21: 199-204.
    • (2006) J Child Neurol , vol.21 , pp. 199-204
    • Wong, V.1
  • 4
    • 79953225914 scopus 로고    scopus 로고
    • Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
    • Numis AL, Major P, Montenegro MA, et al. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology 2011; 76: 981-987.
    • (2011) Neurology , vol.76 , pp. 981-987
    • Numis, A.L.1    Major, P.2    Montenegro, M.A.3
  • 5
    • 22544488406 scopus 로고    scopus 로고
    • Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
    • Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005; 65: 235-238.
    • (2005) Neurology , vol.65 , pp. 235-238
    • Goh, S.1    Kwiatkowski, D.J.2    Dorer, D.J.3
  • 6
    • 0019509687 scopus 로고
    • Proposal for revised clinical and electroencephalographic classification of epileptic seizures. from the Commission on Classification and Terminology of the International League Against Epilepsy
    • ILAE.
    • ILAE. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1981; 22: 489-501.
    • (1981) Epilepsia , vol.22 , pp. 489-501
  • 7
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy
    • ILAE.
    • ILAE. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30: 389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 8
    • 84875589834 scopus 로고    scopus 로고
    • Brain MR spectroscopic abnormalities in "mRI-negative" tuberous sclerosis complex patients
    • Wu WE, Kirov II, Tal A, et al. Brain MR spectroscopic abnormalities in "MRI-negative" tuberous sclerosis complex patients. Epilepsy Behav 2013; 27: 319-325.
    • (2013) Epilepsy Behav , vol.27 , pp. 319-325
    • Wu, W.E.1    Kirov, I.I.2    Tal, A.3
  • 9
    • 84858275947 scopus 로고    scopus 로고
    • Epilepsy and autism: Is there a special relationship?
    • Berg AT, Plioplys S,. Epilepsy and autism: is there a special relationship? Epilepsy Behav 2012; 23: 193-198.
    • (2012) Epilepsy Behav , vol.23 , pp. 193-198
    • Berg, A.T.1    Plioplys, S.2
  • 10
    • 77956232137 scopus 로고    scopus 로고
    • Autism and epilepsy: Historical perspective
    • Tuchman R, Cuccaro M, Alessandri M,. Autism and epilepsy: historical perspective. Brain Dev 2010; 32: 709-718.
    • (2010) Brain Dev , vol.32 , pp. 709-718
    • Tuchman, R.1    Cuccaro, M.2    Alessandri, M.3
  • 11
    • 66749187786 scopus 로고    scopus 로고
    • The role of epilepsy and epileptiform EEGs in autism spectrum disorders
    • Spence SJ, Schneider MT,. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res 2009; 65: 599-606.
    • (2009) Pediatr Res , vol.65 , pp. 599-606
    • Spence, S.J.1    Schneider, M.T.2
  • 12
    • 77954529084 scopus 로고    scopus 로고
    • The natural history of epilepsy in tuberous sclerosis complex
    • Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236-1241.
    • (2010) Epilepsia , vol.51 , pp. 1236-1241
    • Chu-Shore, C.J.1    Major, P.2    Camposano, S.3
  • 13
    • 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 SL, Jozwiak S, Franz DN, 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
  • 14
    • 41149172302 scopus 로고    scopus 로고
    • Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations
    • Jansen FE, Braams O, Vincken KL, 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
  • 15
    • 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
  • 16
    • 33847057994 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
    • Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007; 9: 88-100.
    • (2007) Genet Med , vol.9 , pp. 88-100
    • Au, K.S.1    Williams, A.T.2    Roach, E.S.3
  • 17
    • 0032213545 scopus 로고    scopus 로고
    • Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles
    • Plank TL, Yeung RS, Henske EP,. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 1998; 58: 4766-4770.
    • (1998) Cancer Res , vol.58 , pp. 4766-4770
    • Plank, T.L.1    Yeung, R.S.2    Henske, E.P.3
  • 18
    • 0033954215 scopus 로고    scopus 로고
    • Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues
    • Gutmann DH, Zhang Y, Hasbani MJ, et al. Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. Acta Neuropathol 2000; 99: 223-230.
    • (2000) Acta Neuropathol , vol.99 , pp. 223-230
    • Gutmann, D.H.1    Zhang, Y.2    Hasbani, M.J.3
  • 19
    • 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
  • 20
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.