1. |
Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics, 2010, 41(3): 199-208.
|
2. |
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet, 2008, 372(21): 657-668.
|
3. |
Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol, 2000, 15(4): 652-659.
|
4. |
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med, 2006, 355(7): 1345-1356.
|
5. |
van Slegtenhorst M, deHoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 1997, 277(3): 805-808.
|
6. |
European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 1993, 75(5): 1305-1315.
|
7. |
Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol, 2004, 19(7): 680-686.
|
8. |
Stafstrom CE, Amason BG, Baram TZ, et al. Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. J Child Neurol, 2011, 26(7): 1411-1421.
|
9. |
Curatolo P, Jozwiak S, Nabbout R, et al. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol, 2012, 16(11): 582-586.
|
10. |
Northrup H, Krueger DA. 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.
|
11. |
Hyman MH, Whittemore VH. National Institutes of health consensus conference: tuberous sclerosis complex. Arch Neurol, 2000, 57(3): 662-665.
|
12. |
Dabora SL, Joswiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet, 2001, 68(5): 64-80.
|
13. |
Cheadle J, Reeve M, Samson J, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet, 2000, 62(1): 345-357.
|
14. |
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(3): 88-100.
|
15. |
Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol, 2013, 23(1): 45-52.
|
16. |
Tsai V, Parker WE, Orlova KA, et al. Fetal brain mTOR signaling activation in tuberous sclerosis complex. Cereb Cortex, 2014, 24(2): 315-327.
|
17. |
Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol, 1997, 94(2): 180-186.
|
18. |
Luat AF, Makki M, Chugani HT. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol, 2007, 20(2): 142-150.
|
19. |
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): 731-746.
|
20. |
Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsy chiatr Dis Treat, 2014, 10(6): 2021-2030.
|
21. |
Lewis JC, Thomas HV, Murphy KC, et al. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet, 2004, 41(3): 203-208.
|
22. |
Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia, 2010, 51(8): 1236-1241.
|
23. |
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.
|
24. |
Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol, 2002, 6(10): 15-23.
|
25. |
Weiner DM, Ewalt DH, Roach Es. The tuberous sclerosis complex: a comprehensive review. Current Neurology and Neuroscience Reports, 1998, 2(2): 158-163.
|
26. |
Hunt A. Tuberous sclerosis: a survey of 97 cases. Ⅲ: Family aspects. Dev Med Child Neurol, 1983, 25(3): 353-358.
|
27. |
Chalub EG. Neurocutaneous syndromes in children. Pediatr Clin North Am, 1976, 23(3): 499-516.
|
28. |
Rosser T, Panigrahy A, McClintock W. The diverse manifestations of the tuberous sclerosis complex: a review. Semin Pediatr Neurol, 2006, 13(1): 27-36.
|
29. |
Jansen FE, Braams O, Vincken KL, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology, 2008, 70(9): 908-915.
|
30. |
Samir H, Ghaffar HA, Nasr M. Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases oftuberous sclerosis complex. Eur J Paediatr Neurol, 2011, 15(2): 131-137.
|
31. |
de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol, 2015, 52(1): 25-35.
|
32. |
Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol, 2015, 52(1): 16-24.
|
33. |
Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int, 2004, 66(3): 924-934.
|
34. |
Sampson JR, Maheshwar mm, 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.
|
35. |
Bosi G, Lintermans JP, Pellegrino PA, et al. The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. Acta Paediatr, 1996, 85(8): 928-931.
|
36. |
Mc Cormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med, 2011, 364(17): 1595-1606.
|
37. |
Krueger DA, Northrup H, Roberds S, et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International tuberous sclerosis complex consensus conference. Pediatr Neurol, 2013, 49(7): 255-265.
|
38. |
Riikonen R, Rener-Primec Z, Carmant L, et al. Does vigabatrin treatment for infantile spasms cause visual field defects? An international multicentre study. Dev Med Child Neurol, 2015, 57(10): 60-67.
|
39. |
Cusmai R, Moavero R, Bombardieri R, et al. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. Epilepsy Behav, 2011, 22(4): 735-739.
|
40. |
Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res, 2013, 105(11): 377-383.
|
41. |
Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia, 2005, 46(2): 1684-1686.
|
42. |
Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet, 2013, 381(12): 116.
|
43. |
Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet, 2013, 381(4): 817-824.
|