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Volumn 35, Issue 3, 2015, Pages 269-276

Epilepsy in tuberous sclerosis: Phenotypes, mechanisms, and treatments

Author keywords

epilepsy; mTORC1; TSC1; TSC2; tuberous sclerosis

Indexed keywords

ANTICONVULSIVE AGENT; CORTICOSTEROID; FELBAMATE; LAMOTRIGINE; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; RUFINAMIDE; TOPIRAMATE; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; ZONISAMIDE; CALCIUM BINDING PROTEIN; TARGET OF RAPAMYCIN KINASE; TSC PROTEIN, HUMAN;

EID: 84931263336     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0035-1552616     Document Type: Article
Times cited : (49)

References (83)
  • 1
  • 2
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell: 1993; 75 7 1305 1315
    • (1993) Cell , vol.75 , Issue.7 , pp. 1305-1315
  • 3
    • 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 5327 805 808
    • (1997) Science , vol.277 , Issue.5327 , pp. 805-808
    • Van Slegtenhorst, M.1    De Hoogt, R.2    Hermans, C.3
  • 4
    • 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 1 64 80
    • (2001) Am J Hum Genet , vol.68 , Issue.1 , pp. 64-80
    • Dabora, S.L.1    Jozwiak, S.2    Franz, D.N.3
  • 5
    • 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 6 731 741
    • (2005) Eur J Hum Genet , vol.13 , Issue.6 , pp. 731-741
    • Sancak, O.1    Nellist, M.2    Goedbloed, M.3
  • 6
    • 84908155222 scopus 로고    scopus 로고
    • Optimal management of seizures associated with tuberous sclerosis complex: Current and emerging options
    • Wang S., Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat: 2014; 10 2021 2030
    • (2014) Neuropsychiatr Dis Treat , vol.10 , pp. 2021-2030
    • Wang, S.1    Fallah, A.2
  • 7
    • 1542407036 scopus 로고    scopus 로고
    • Genotype and psychological phenotype in tuberous sclerosis
    • Lewis J. C., Thomas H. V., Murphy K. C., Sampson J. R. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet: 2004; 41 3 203 207
    • (2004) J Med Genet , vol.41 , Issue.3 , pp. 203-207
    • Lewis, J.C.1    Thomas, H.V.2    Murphy, K.C.3    Sampson, J.R.4
  • 8
    • 84884522817 scopus 로고    scopus 로고
    • Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • International Tuberous Sclerosis Complex Consensus Group.
    • Northrup H., Krueger D. A.; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol: 2013; 49 4 243 254
    • (2013) Pediatr Neurol , vol.49 , Issue.4 , pp. 243-254
    • Northrup, H.1    Krueger, D.A.2
  • 9
    • 4344669265 scopus 로고    scopus 로고
    • Renal angiomyolipomata
    • Bissler J. J., Kingswood J. C. Renal angiomyolipomata. Kidney Int: 2004; 66 3 924 934
    • (2004) Kidney Int , vol.66 , Issue.3 , pp. 924-934
    • Bissler, J.J.1    Kingswood, J.C.2
  • 10
    • 16944367389 scopus 로고    scopus 로고
    • Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
    • Sampson J. R., Maheshwar M. M., Aspinwall R., et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet: 1997; 61 4 843 851
    • (1997) Am J Hum Genet , vol.61 , Issue.4 , pp. 843-851
    • Sampson, J.R.1    Maheshwar, M.M.2    Aspinwall, R.3
  • 12
    • 79955510505 scopus 로고    scopus 로고
    • Efficacy and safety of sirolimus in lymphangioleiomyomatosis
    • McCormack F. X., Inoue Y., Moss J., et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med: 2011; 364 17 1595 1606
    • (2011) N Engl J Med , vol.364 , Issue.17 , pp. 1595-1606
    • McCormack, F.X.1    Inoue, Y.2    Moss, J.3
  • 13
    • 0020776246 scopus 로고
    • Tuberous sclerosis: A survey of 97 cases. III: Family aspects
    • Hunt A. Tuberous sclerosis: a survey of 97 cases. III: Family aspects. Dev Med Child Neurol: 1983; 25 3 353 357
    • (1983) Dev Med Child Neurol , vol.25 , Issue.3 , pp. 353-357
    • Hunt, A.1
  • 14
    • 0025832870 scopus 로고
    • On the incidence of fits and mental retardation in tuberous sclerosis
    • Webb D. W., Fryer A. E., Osborne J. P. On the incidence of fits and mental retardation in tuberous sclerosis. J Med Genet: 1991; 28 6 395 397
    • (1991) J Med Genet , vol.28 , Issue.6 , pp. 395-397
    • Webb, D.W.1    Fryer, A.E.2    Osborne, J.P.3
  • 15
    • 8844285191 scopus 로고    scopus 로고
    • Managing epilepsy in tuberous sclerosis complex
    • Thiele E. A. Managing epilepsy in tuberous sclerosis complex. J Child Neurol: 2004; 19 9 680 686
    • (2004) J Child Neurol , vol.19 , Issue.9 , pp. 680-686
    • Thiele, E.A.1
  • 16
    • 84919326555 scopus 로고    scopus 로고
    • Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist
    • de Vries P. J., Whittemore V. H., Leclezio L., et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol: 2015; 52 1 25 35
    • (2015) Pediatr Neurol , vol.52 , Issue.1 , pp. 25-35
    • De Vries, P.J.1    Whittemore, V.H.2    Leclezio, L.3
  • 17
    • 84919343977 scopus 로고    scopus 로고
    • Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist
    • Leclezio L., Jansen A., Whittemore V. H., de Vries P. J. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol: 2015; 52 1 16 24
    • (2015) Pediatr Neurol , vol.52 , Issue.1 , pp. 16-24
    • Leclezio, L.1    Jansen, A.2    Whittemore, V.H.3    De Vries, P.J.4
  • 18
    • 84870873020 scopus 로고    scopus 로고
    • Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation
    • Prabowo A. S., Anink J. J., Lammens M., et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol: 2013; 23 1 45 59
    • (2013) Brain Pathol , vol.23 , Issue.1 , pp. 45-59
    • Prabowo, A.S.1    Anink, J.J.2    Lammens, M.3
  • 19
    • 84896320213 scopus 로고    scopus 로고
    • Fetal brain mTOR signaling activation in tuberous sclerosis complex
    • Tsai V., Parker W. E., Orlova K. A., et al. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cereb Cortex: 2014; 24 2 315 327
    • (2014) Cereb Cortex , vol.24 , Issue.2 , pp. 315-327
    • Tsai, V.1    Parker, W.E.2    Orlova, K.A.3
  • 20
    • 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 2 180 186
    • (1997) Acta Neuropathol , vol.94 , Issue.2 , pp. 180-186
    • Park, S.H.1    Pepkowitz, S.H.2    Kerfoot, C.3
  • 21
    • 33947098824 scopus 로고    scopus 로고
    • Neuroimaging in tuberous sclerosis complex
    • Luat A. F., Makki M., Chugani H. T. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol: 2007; 20 2 142 150
    • (2007) Curr Opin Neurol , vol.20 , Issue.2 , pp. 142-150
    • Luat, A.F.1    Makki, M.2    Chugani, H.T.3
  • 22
    • 0026538490 scopus 로고
    • MR imaging of tuberous sclerosis: Pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review
    • Braffman B. H., Bilaniuk L. T., Naidich T. P., et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology: 1992; 183 1 227 238
    • (1992) Radiology , vol.183 , Issue.1 , pp. 227-238
    • Braffman, B.H.1    Bilaniuk, L.T.2    Naidich, T.P.3
  • 23
    • 35348930475 scopus 로고    scopus 로고
    • Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex
    • Makki M. I., Chugani D. C., Janisse J., Chugani H. T. Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex. AJNR Am J Neuroradiol: 2007; 28 9 1662 1667
    • (2007) AJNR Am J Neuroradiol , vol.28 , Issue.9 , pp. 1662-1667
    • Makki, M.I.1    Chugani, D.C.2    Janisse, J.3    Chugani, H.T.4
  • 24
    • 70350641198 scopus 로고    scopus 로고
    • Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex
    • Arulrajah S., Ertan G., Jordan L., et al. Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex. Neuroradiology: 2009; 51 11 781 786
    • (2009) Neuroradiology , vol.51 , Issue.11 , pp. 781-786
    • Arulrajah, S.1    Ertan, G.2    Jordan, L.3
  • 25
    • 2542643798 scopus 로고    scopus 로고
    • Cerebral diffusion tensor images in children with tuberous sclerosis: A preliminary report
    • Peng S. S., Lee W. T., Wang Y. H., Huang K. M. Cerebral diffusion tensor images in children with tuberous sclerosis: a preliminary report. Pediatr Radiol: 2004; 34 5 387 392
    • (2004) Pediatr Radiol , vol.34 , Issue.5 , pp. 387-392
    • Peng, S.S.1    Lee, W.T.2    Wang, Y.H.3    Huang, K.M.4
  • 26
    • 84865371057 scopus 로고    scopus 로고
    • TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1
    • Dibble C. C., Elis W., Menon S., et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell: 2012; 47 4 535 546
    • (2012) Mol Cell , vol.47 , Issue.4 , pp. 535-546
    • Dibble, C.C.1    Elis, W.2    Menon, S.3
  • 27
    • 84877965001 scopus 로고    scopus 로고
    • Regulation of mTORC1 and its impact on gene expression at a glance
    • Laplante M., Sabatini D. M. Regulation of mTORC1 and its impact on gene expression at a glance. J Cell Sci: 2013; 126 Pt 8 1713 1719
    • (2013) J Cell Sci , vol.126 , pp. 1713-1719
    • Laplante, M.1    Sabatini, D.M.2
  • 28
    • 79955779584 scopus 로고    scopus 로고
    • MTOR links oncogenic signaling to tumor cell metabolism
    • Yecies J. L., Manning B. D. mTOR links oncogenic signaling to tumor cell metabolism. J Mol Med (Berl): 2011; 89 3 221 228
    • (2011) J Mol Med (Berl) , vol.89 , Issue.3 , pp. 221-228
    • Yecies, J.L.1    Manning, B.D.2
  • 29
    • 84894628256 scopus 로고    scopus 로고
    • Kinase mTOR: Regulation and role in maintenance of cellular homeostasis, tumor development, and aging
    • Parkhitko A. A., Favorova O. O., Khabibullin D. I., Anisimov V. N., Henske E. P. Kinase mTOR: regulation and role in maintenance of cellular homeostasis, tumor development, and aging. Biochemistry (Mosc): 2014; 79 2 88 101
    • (2014) Biochemistry (Mosc) , vol.79 , Issue.2 , pp. 88-101
    • Parkhitko, A.A.1    Favorova, O.O.2    Khabibullin, D.I.3    Anisimov, V.N.4    Henske, E.P.5
  • 30
    • 8844286824 scopus 로고    scopus 로고
    • Molecular genetic basis of tuberous sclerosis complex: From bench to bedside
    • Au K. S., Williams A. T., Gambello M. J., Northrup H. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol: 2004; 19 9 699 709
    • (2004) J Child Neurol , vol.19 , Issue.9 , pp. 699-709
    • Au, K.S.1    Williams, A.T.2    Gambello, M.J.3    Northrup, H.4
  • 31
    • 44449161481 scopus 로고    scopus 로고
    • The TSC1-TSC2 complex: A molecular switchboard controlling cell growth
    • Huang J., Manning B. D. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J: 2008; 412 2 179 190
    • (2008) Biochem J , vol.412 , Issue.2 , pp. 179-190
    • Huang, J.1    Manning, B.D.2
  • 32
    • 84894486696 scopus 로고    scopus 로고
    • Nutrient regulation of the mTOR complex 1 signaling pathway
    • Kim S. G., Buel G. R., Blenis J. Nutrient regulation of the mTOR complex 1 signaling pathway. Mol Cells: 2013; 35 6 463 473
    • (2013) Mol Cells , vol.35 , Issue.6 , pp. 463-473
    • Kim, S.G.1    Buel, G.R.2    Blenis, J.3
  • 33
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    • Ehninger D., Han S., Shilyansky C., et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med: 2008; 14 8 843 848
    • (2008) Nat Med , vol.14 , Issue.8 , pp. 843-848
    • Ehninger, D.1    Han, S.2    Shilyansky, C.3
  • 34
    • 84912125429 scopus 로고    scopus 로고
    • Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components
    • Saxena A., Sampson J. R. Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components. Semin Cell Dev Biol: 2014; 36 140 146
    • (2014) Semin Cell Dev Biol , vol.36 , pp. 140-146
    • Saxena, A.1    Sampson, J.R.2
  • 35
    • 84897847683 scopus 로고    scopus 로고
    • Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex
    • Tyburczy M. E., Wang J. A., Li S., et al. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet: 2014; 23 8 2023 2029
    • (2014) Hum Mol Genet , vol.23 , Issue.8 , pp. 2023-2029
    • Tyburczy, M.E.1    Wang, J.A.2    Li, S.3
  • 36
    • 9044220611 scopus 로고    scopus 로고
    • Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas
    • Carbonara C., Longa L., Grosso E., et al. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer: 1996; 15 1 18 25
    • (1996) Genes Chromosomes Cancer , vol.15 , Issue.1 , pp. 18-25
    • Carbonara, C.1    Longa, L.2    Grosso, E.3
  • 37
    • 84912135993 scopus 로고    scopus 로고
    • Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies
    • Liu J., Reeves C., Michalak Z., et al. Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies. Acta Neuropathol Commun: 2014; 2 71
    • (2014) Acta Neuropathol Commun , vol.2 , pp. 71
    • Liu, J.1    Reeves, C.2    Michalak, Z.3
  • 38
    • 0036230521 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: A review of neurological aspects
    • Curatolo P., Verdecchia M., Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol: 2002; 6 1 15 23
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.1 , pp. 15-23
    • Curatolo, P.1    Verdecchia, M.2    Bombardieri, R.3
  • 39
    • 20044375557 scopus 로고    scopus 로고
    • Intractable seizures in tuberous sclerosis complex: From molecular pathogenesis to the rationale for treatment
    • Curatolo P., Bombardieri R., Verdecchia M., Seri S. Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. J Child Neurol: 2005; 20 4 318 325
    • (2005) J Child Neurol , vol.20 , Issue.4 , pp. 318-325
    • Curatolo, P.1    Bombardieri, R.2    Verdecchia, M.3    Seri, S.4
  • 40
    • 0027336869 scopus 로고
    • Cognitive assessment of infants with West syndrome: How useful is it for diagnosis and prognosis
    • Guzzetta F., Crisafulli A., Isaya Crinó M. Cognitive assessment of infants with West syndrome: how useful is it for diagnosis and prognosis? Dev Med Child Neurol: 1993; 35 5 379 387
    • (1993) Dev Med Child Neurol , vol.35 , Issue.5 , pp. 379-387
    • Guzzetta, F.1    Crisafulli, A.2    Isaya Crinó, M.3
  • 41
  • 43
    • 33645306586 scopus 로고    scopus 로고
    • Vigabatrin retinopathy in an Irish cohort: Lack of correlation with dose
    • Kinirons P., Cavalleri G. L., O'Rourke D., et al. Vigabatrin retinopathy in an Irish cohort: lack of correlation with dose. Epilepsia: 2006; 47 2 311 317
    • (2006) Epilepsia , vol.47 , Issue.2 , pp. 311-317
    • Kinirons, P.1    Cavalleri, G.L.2    O'Rourke, D.3
  • 44
    • 0036263937 scopus 로고    scopus 로고
    • Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex
    • Bolton P. F., Park R. J., Higgins J. N., Griffiths P. D., Pickles A. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain: 2002; 125 Pt 6 1247 1255
    • (2002) Brain , vol.125 , pp. 1247-1255
    • Bolton, P.F.1    Park, R.J.2    Higgins, J.N.3    Griffiths, P.D.4    Pickles, A.5
  • 46
    • 12244298162 scopus 로고    scopus 로고
    • Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
    • Joinson C., O'Callaghan F. J., Osborne J. P., Martyn C., Harris T., Bolton P. F. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med: 2003; 33 2 335 344
    • (2003) Psychol Med , vol.33 , Issue.2 , pp. 335-344
    • Joinson, C.1    O'Callaghan, F.J.2    Osborne, J.P.3    Martyn, C.4    Harris, T.5    Bolton, P.F.6
  • 47
    • 2642525301 scopus 로고    scopus 로고
    • The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
    • O'Callaghan F. J., Harris T., Joinson C., et al. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child: 2004; 89 6 530 533
    • (2004) Arch Dis Child , vol.89 , Issue.6 , pp. 530-533
    • O'Callaghan, F.J.1    Harris, T.2    Joinson, C.3
  • 48
    • 0042333322 scopus 로고    scopus 로고
    • Long-term follow-up study of West syndrome: Differences of outcome among symptomatic etiologies
    • Hamano S., Tanaka M., Mochizuki M., Sugiyama N., Eto Y. Long-term follow-up study of West syndrome: differences of outcome among symptomatic etiologies. J Pediatr: 2003; 143 2 231 235
    • (2003) J Pediatr , vol.143 , Issue.2 , pp. 231-235
    • Hamano, S.1    Tanaka, M.2    Mochizuki, M.3    Sugiyama, N.4    Eto, Y.5
  • 49
    • 0034772164 scopus 로고    scopus 로고
    • Long-term follow-up study of West syndrome associated with tuberous sclerosis
    • Fukushima K., Inoue Y., Fujiwara T., Yagi K. Long-term follow-up study of West syndrome associated with tuberous sclerosis. Brain Dev: 2001; 23 7 698 704
    • (2001) Brain Dev , vol.23 , Issue.7 , pp. 698-704
    • Fukushima, K.1    Inoue, Y.2    Fujiwara, T.3    Yagi, K.4
  • 50
    • 0021722430 scopus 로고
    • Tuberous sclerosis: Case study of early seizure control and subsequent normal development
    • Lane V. W., Samples J. M. Tuberous sclerosis: case study of early seizure control and subsequent normal development. J Autism Dev Disord: 1984; 14 4 423 427
    • (1984) J Autism Dev Disord , vol.14 , Issue.4 , pp. 423-427
    • Lane, V.W.1    Samples, J.M.2
  • 51
    • 0033991818 scopus 로고    scopus 로고
    • Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients
    • Jambaqué I., Chiron C., Dumas C., Mumford J., Dulac O. Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res: 2000; 38 2-3 151 160
    • (2000) Epilepsy Res , vol.38 , Issue.23 , pp. 151-160
    • Jambaqué, I.1    Chiron, C.2    Dumas, C.3    Mumford, J.4    Dulac, O.5
  • 52
    • 8944250671 scopus 로고    scopus 로고
    • Vigabatrin as initial therapy for infantile spasms: A European retrospective survey
    • Sabril IS Investigator and Peer Review Groups.
    • Aicardi J., Mumford J. P., Dumas C., Wood S.; Sabril IS Investigator and Peer Review Groups. Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Epilepsia: 1996; 37 7 638 642
    • (1996) Epilepsia , vol.37 , Issue.7 , pp. 638-642
    • Aicardi, J.1    Mumford, J.P.2    Dumas, C.3    Wood, S.4
  • 55
    • 0029849117 scopus 로고    scopus 로고
    • Neurological manifestations of tuberous sclerosis complex
    • Curatolo P. Neurological manifestations of tuberous sclerosis complex. Childs Nerv Syst: 1996; 12 9 515 521
    • (1996) Childs Nerv Syst , vol.12 , Issue.9 , pp. 515-521
    • Curatolo, P.1
  • 56
    • 70350617952 scopus 로고    scopus 로고
    • Refractory epilepsy in tuberous sclerosis: Vagus nerve stimulation with or without subsequent resective surgery
    • Elliott R. E., Carlson C., Kalhorn S. P., et al. Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav: 2009; 16 3 454 460
    • (2009) Epilepsy Behav , vol.16 , Issue.3 , pp. 454-460
    • Elliott, R.E.1    Carlson, C.2    Kalhorn, S.P.3
  • 57
    • 84890118994 scopus 로고    scopus 로고
    • Epilepsy in TSC: Certain etiology does not mean certain prognosis
    • Vignoli A., La Briola F., Turner K., et al. Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia: 2013; 54 12 2134 2142
    • (2013) Epilepsia , vol.54 , Issue.12 , pp. 2134-2142
    • Vignoli, A.1    La Briola, F.2    Turner, K.3
  • 58
    • 78649330303 scopus 로고    scopus 로고
    • Epilepsy secondary to tuberous sclerosis: Lessons learned and current challenges
    • Moavero R., Cerminara C., Curatolo P. Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges. Childs Nerv Syst: 2010; 26 11 1495 1504
    • (2010) Childs Nerv Syst , vol.26 , Issue.11 , pp. 1495-1504
    • Moavero, R.1    Cerminara, C.2    Curatolo, P.3
  • 59
    • 84884511014 scopus 로고    scopus 로고
    • Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
    • International Tuberous Sclerosis Complex Consensus Group.
    • Krueger D. A., Northrup H.; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol: 2013; 49 4 255 265
    • (2013) Pediatr Neurol , vol.49 , Issue.4 , pp. 255-265
    • Krueger, D.A.1    Northrup, H.2
  • 60
    • 61849120025 scopus 로고    scopus 로고
    • Lamotrigine-valproic acid combination therapy for medically refractory epilepsy
    • Moeller J. J., Rahey S. R., Sadler R. M. Lamotrigine-valproic acid combination therapy for medically refractory epilepsy. Epilepsia: 2009; 50 3 475 479
    • (2009) Epilepsia , vol.50 , Issue.3 , pp. 475-479
    • Moeller, J.J.1    Rahey, S.R.2    Sadler, R.M.3
  • 61
    • 61849098715 scopus 로고    scopus 로고
    • Benefit of combination therapy in epilepsy: A review of the preclinical evidence with levetiracetam
    • Kaminski R. M., Matagne A., Patsalos P. N., Klitgaard H. Benefit of combination therapy in epilepsy: a review of the preclinical evidence with levetiracetam. Epilepsia: 2009; 50 3 387 397
    • (2009) Epilepsia , vol.50 , Issue.3 , pp. 387-397
    • Kaminski, R.M.1    Matagne, A.2    Patsalos, P.N.3    Klitgaard, H.4
  • 62
    • 1342345254 scopus 로고    scopus 로고
    • Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy
    • Lazarowski A., Lubieniecki F., Camarero S., et al. Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy. Pediatr Neurol: 2004; 30 2 102 106
    • (2004) Pediatr Neurol , vol.30 , Issue.2 , pp. 102-106
    • Lazarowski, A.1    Lubieniecki, F.2    Camarero, S.3
  • 63
    • 0037412011 scopus 로고    scopus 로고
    • Epilepsy surgery in tuberous sclerosis: Multistage procedures with bilateral or multilobar foci
    • Romanelli P., Najjar S., Weiner H. L., Devinsky O. Epilepsy surgery in tuberous sclerosis: multistage procedures with bilateral or multilobar foci. J Child Neurol: 2002; 17 9 689 692
    • (2002) J Child Neurol , vol.17 , Issue.9 , pp. 689-692
    • Romanelli, P.1    Najjar, S.2    Weiner, H.L.3    Devinsky, O.4
  • 64
    • 84925031746 scopus 로고    scopus 로고
    • Long-term outcomes of resective epilepsy surgery after invasive presurgical evaluation in children with tuberous sclerosis complex and bilateral multiple lesions
    • Arya R., Tenney J. R., Horn P. S., et al. Long-term outcomes of resective epilepsy surgery after invasive presurgical evaluation in children with tuberous sclerosis complex and bilateral multiple lesions. J Neurosurg Pediatr: 2015; 15 1 26 33
    • (2015) J Neurosurg Pediatr , vol.15 , Issue.1 , pp. 26-33
    • Arya, R.1    Tenney, J.R.2    Horn, P.S.3
  • 65
    • 26944463904 scopus 로고    scopus 로고
    • Clinical outcomes after corpus callosotomy in patients with bihemispheric malformations of cortical development
    • Kawai K., Shimizu H., Yagishita A., Maehara T., Tamagawa K. Clinical outcomes after corpus callosotomy in patients with bihemispheric malformations of cortical development. J Neurosurg: 2004; 101 (1, Suppl): 7 15
    • (2004) J Neurosurg , vol.101 , Issue.1 , pp. 7-15
    • Kawai, K.1    Shimizu, H.2    Yagishita, A.3    Maehara, T.4    Tamagawa, K.5
  • 66
    • 33746287771 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: A review of the management of epilepsy with emphasis on surgical aspects
    • Connolly M. B., Hendson G., Steinbok P. Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects. Childs Nerv Syst: 2006; 22 8 896 908
    • (2006) Childs Nerv Syst , vol.22 , Issue.8 , pp. 896-908
    • Connolly, M.B.1    Hendson, G.2    Steinbok, P.3
  • 67
    • 0037167532 scopus 로고    scopus 로고
    • Therapeutic mechanisms of vagus nerve stimulation
    • 04
    • Henry T. R. Therapeutic mechanisms of vagus nerve stimulation. Neurology: 2002; 59 6 04 S3 S14
    • (2002) Neurology , vol.59 , Issue.6 , pp. S3-S14
    • Henry, T.R.1
  • 68
    • 0033544431 scopus 로고    scopus 로고
    • Long-term treatment with vagus nerve stimulation in patients with refractory epilepsy. The Vagus Nerve Stimulation Study Group E01-E05
    • Morris G. L. III, Mueller W. M. Long-term treatment with vagus nerve stimulation in patients with refractory epilepsy. The Vagus Nerve Stimulation Study Group E01-E05. Neurology: 1999; 53 8 1731 1735
    • (1999) Neurology , vol.53 , Issue.8 , pp. 1731-1735
    • Morris, G.L.1    Mueller, W.M.2
  • 69
    • 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 2 357 360
    • (2008) Epilepsy Behav , vol.13 , Issue.2 , pp. 357-360
    • Major, P.1    Thiele, E.A.2
  • 71
    • 84879699812 scopus 로고    scopus 로고
    • How does the ketogenic diet work? Four potential mechanisms
    • Danial N. N., Hartman A. L., Stafstrom C. E., Thio L. L. How does the ketogenic diet work? Four potential mechanisms. J Child Neurol: 2013; 28 8 1027 1033
    • (2013) J Child Neurol , vol.28 , Issue.8 , pp. 1027-1033
    • Danial, N.N.1    Hartman, A.L.2    Stafstrom, C.E.3    Thio, L.L.4
  • 72
    • 79952570329 scopus 로고    scopus 로고
    • The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway
    • McDaniel S. S., Rensing N. R., Thio L. L., Yamada K. A., Wong M. The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway. Epilepsia: 2011; 52 3 e7 e11
    • (2011) Epilepsia , vol.52 , Issue.3 , pp. e7-e11
    • McDaniel, S.S.1    Rensing, N.R.2    Thio, L.L.3    Yamada, K.A.4    Wong, M.5
  • 73
    • 84861925298 scopus 로고    scopus 로고
    • Ketogenic diet and other dietary treatments for epilepsy
    • Levy R. G., Cooper P. N., Giri P. Ketogenic diet and other dietary treatments for epilepsy. Cochrane Database Syst Rev: 2012; 3 CD001903
    • (2012) Cochrane Database Syst Rev , vol.3 , pp. CD001903
    • Levy, R.G.1    Cooper, P.N.2    Giri, P.3
  • 74
    • 34250626014 scopus 로고    scopus 로고
    • A mouse model of tuberous sclerosis: Neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
    • Meikle L., Talos D. M., Onda H., et al. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci: 2007; 27 21 5546 5558
    • (2007) J Neurosci , vol.27 , Issue.21 , pp. 5546-5558
    • Meikle, L.1    Talos, D.M.2    Onda, H.3
  • 75
    • 79953296435 scopus 로고    scopus 로고
    • Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
    • Feliciano D. M., Su T., Lopez J., Platel J. C., Bordey A. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. J Clin Invest: 2011; 121 4 1596 1607
    • (2011) J Clin Invest , vol.121 , Issue.4 , pp. 1596-1607
    • Feliciano, D.M.1    Su, T.2    Lopez, J.3    Platel, J.C.4    Bordey, A.5
  • 76
    • 45849110311 scopus 로고    scopus 로고
    • Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: Effects on mTORC1 and Akt signaling lead to improved survival and function
    • Meikle L., Pollizzi K., Egnor A., et al. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci: 2008; 28 21 5422 5432
    • (2008) J Neurosci , vol.28 , Issue.21 , pp. 5422-5432
    • Meikle, L.1    Pollizzi, K.2    Egnor, A.3
  • 77
    • 42949138696 scopus 로고    scopus 로고
    • Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers
    • Talos D. M., Kwiatkowski D. J., Cordero K., Black P. M., Jensen F. E. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol: 2008; 63 4 454 465
    • (2008) Ann Neurol , vol.63 , Issue.4 , pp. 454-465
    • Talos, D.M.1    Kwiatkowski, D.J.2    Cordero, K.3    Black, P.M.4    Jensen, F.E.5
  • 78
    • 84923250272 scopus 로고    scopus 로고
    • Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy
    • Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr Neurol: 2015; 52 3 281 289
    • (2015) Pediatr Neurol , vol.52 , Issue.3 , pp. 281-289
    • Curatolo, P.1
  • 79
    • 84890806945 scopus 로고    scopus 로고
    • Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
    • Krueger D. A., Wilfong A. A., Holland-Bouley K., et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol: 2013; 74 5 679 687
    • (2013) Ann Neurol , vol.74 , Issue.5 , pp. 679-687
    • Krueger, D.A.1    Wilfong, A.A.2    Holland-Bouley, K.3
  • 80
    • 77951783390 scopus 로고    scopus 로고
    • STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice
    • Orlova K. A., Parker W. E., Heuer G. G., et al. STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. J Clin Invest: 2010; 120 5 1591 1602
    • (2010) J Clin Invest , vol.120 , Issue.5 , pp. 1591-1602
    • Orlova, K.A.1    Parker, W.E.2    Heuer, G.G.3
  • 81
    • 37549016789 scopus 로고    scopus 로고
    • Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
    • Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia: 2008; 49 1 8 21
    • (2008) Epilepsia , vol.49 , Issue.1 , pp. 8-21
    • Wong, M.1
  • 82
    • 84855958205 scopus 로고    scopus 로고
    • MTOR: A pathogenic signaling pathway in developmental brain malformations
    • Crino P. B. mTOR: A pathogenic signaling pathway in developmental brain malformations. Trends Mol Med: 2011; 17 12 734 742
    • (2011) Trends Mol Med , vol.17 , Issue.12 , pp. 734-742
    • Crino, P.B.1
  • 83
    • 84873349273 scopus 로고    scopus 로고
    • Hemimegalencephaly: Foetal tauopathy with mTOR hyperactivation and neuronal lipidosis
    • Sarnat H., Flores-Sarnat L., Crino P., Hader W., Bello-Espinosa L. Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis. Folia Neuropathol: 2012; 50 4 330 345
    • (2012) Folia Neuropathol , vol.50 , Issue.4 , pp. 330-345
    • Sarnat, H.1    Flores-Sarnat, L.2    Crino, P.3    Hader, W.4    Bello-Espinosa, L.5


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