Tuberous sclerosis complex

Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Full text  Abstract

Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Full text  Abstract

Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Full text  Abstract

Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66. Abstract

de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Full text  Abstract

Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Full text  Abstract

1. Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Full text  Abstract

2. Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.

3. Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5. Abstract

4. Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Full text  Abstract

5. 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. Abstract

6. de Vries PJ, Wilde L, de Vries MC, et al. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):309-20.Full text  Abstract

7. de Vries PJ, Belousova E, Benedik MP, et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018 Sep 10;13(1):157.Full text  Abstract

8. Tye C, Mcewen FS, Liang H, et al. Long-term cognitive outcomes in tuberous sclerosis complex. Dev Med Child Neurol. 2020 Mar;62(3):322-29.Full text  Abstract

9. Sampson JR, Scahill SJ, Stephenson JB, et al. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28-31. Abstract

10. O'Callaghan FJ, Shiell AW, Osborne JP, et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998 May 16;351(9114):1490. Abstract

11. Strzelczyk A, Rosenow F, Zöllner JP, et al. Epidemiology, healthcare resource use, and mortality in patients with tuberous sclerosis complex: a population-based study on German health insurance data. Seizure. 2021 Oct;91:287-95.Full text  Abstract

12. 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 Feb;9(2):88-100. Abstract

13. Tyburczy ME, Dies KA, Glass J, et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015 Nov;11(11):e1005637.Full text  Abstract

14. Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Full text  Abstract

15. Dabora SL, Jozwiak 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 Jan;68(1):64-80.Full text  Abstract

16. Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571-6.Full text  Abstract

17. Mak BC, Yeung RS. The tuberous sclerosis complex genes in tumor development. Cancer Invest. 2004;22:588-603. Abstract

18. Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66. Abstract

19. Nathan N, Keppler-Noreuil KM, Biesecker LG, et al. Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway. Dermatol Clin. 2017 Jan;35(1):51-60. Abstract

20. Julie LN, Maja PS, Lisbeth BM, et al. Mosaicism in tuberous sclerosis complex: a case report, literature review, and original data from Danish Hospitals​. European Medical Journal. Nov 2021;9(1):98-105.Full text

21. de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Full text  Abstract

22. Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol. 2015 Jan;52(1):16-24.Full text  Abstract

23. Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.Full text  Abstract

24. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6. Abstract

25. Benyounes N, Fohlen M, Devys JM, et al. Cardiac rhabdomyomas in tuberous sclerosis patients: a case report and review of the literature. Arch Cardiovasc Dis. 2012 Aug-Sep;105(8-9):442-5.Full text  Abstract

26. DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7. Abstract

27. Dhakal M, Dhakal OP, Bhandari D. Polycystic kidney disease and chronic renal failure in tuberous sclerosis. BMJ Case Rep. 2013 Oct 2;2013. Abstract

28. Kingswood JC, Belousova E, Benedik MP, et al. Renal manifestations of tuberous sclerosis complex: key findings from the final analysis of the TOSCA study focussing mainly on renal angiomyolipomas. Front Neurol. 2020;11:972.Full text  Abstract

29. Di Marco F, Terraneo S, Imeri G, et al. Women with TSC: Relationship between clinical, lung function and radiological features in a genotyped population investigated for lymphangioleiomyomatosis. PLoS One. 2016;11(5):e0155331.Full text  Abstract

30. Jóźwiak S, Nabbout R, Curatolo P, et al. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. Eur J Paediatr Neurol. 2013 Jul;17(4):348-52. Abstract

31. Monaghan M, Takhar P, Langlands L, et al. Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments. Front Med (Lausanne). 2022;9:967971.Full text  Abstract

32. The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics. 1997 Aug 15;44(1):94-100. Abstract

33. Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):690-8. Abstract

34. 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 Oct;49(4):243-54.Full text  Abstract

35. Cascarino M, Leclerc-Mercier S. Histological patterns of skin lesions in tuberous sclerosis complex: a panorama. Dermatopathology (Basel). 2021 Jul 4;8(3):236-52.Full text  Abstract

36. Sparling JD, Hong CH, Brahim JS, et al. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol. 2007 May;56(5):786-90. Abstract

37. Devroede G, Lemieux B, Masse S, et al. Colonic hamartomas in tuberous sclerosis. Gastroenterology. 1988 Jan;94(1):182-8. Abstract

38. Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol. 2004 Sep;19(9):675-9. Abstract

39. Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):666-74. Abstract

40. Kopp CM, Muzykewicz DA, Staley BA, et al. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008 Oct;13(3):505-10. Abstract

41. Hinton RB, Prakash A, Romp RL, et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc. 2014 Nov 25;3(6):e001493.Full text  Abstract

42. Jie L, Volney S. Periventricular heterotopia. Epilepsy Behav. 2005 Sep;7(2):143-9. Abstract

43. Parrini E. Periventricular heterotopia; phenotypic heterogeneity and correlation with filamin A mutations. Brain. 2006 Jul;129(Pt 7):1892-906. Abstract

44. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Derm. 1997 Jul;133(7):853-7. Abstract

45. Spring P, Fellmann F, Giraud S, et al. Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol. 2013 Apr;35(2):241-5. Abstract

46. Crane JP, LeFevre ML, Winborn RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994 Aug;171(2):392-9. Abstract

47. Gagnon A, Wilson RD, Allen VM, et al; Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-81. Abstract

48. 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 Jul;14(4):183-90. Abstract

49. Sasongko TH, Kademane K, Chai Soon Hou S, et al. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane database syst rev. 2023 Jul 11;7(7):CD011272.Full text  Abstract

50. Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.Full text  Abstract

51. van der Poest Clement E, Jansen FE, Braun KPJ, et al. Update on drug management of refractory epilepsy in tuberous sclerosis complex. Paediatr Drugs. 2020 Feb;22(1):73-84. Abstract

52. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999 Feb;14(2):71-4. Abstract

53. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010 Oct;51(10):2175-89.Full text  Abstract

54. Romanelli P, Verdecchia M, Curatolo P, et al. Epilepsy surgery for tuberous sclerosis. Pediatr Neurol. 2004 Oct;31(4):239-47. Abstract

55. Saneto R, Sparagana S, Kwan P, et al. Efficacy of add-on cannabidiol (CBD) treatment in patients with tuberous sclerosis complex (TSC) and a history of infantile spasms (IS): post hoc analysis of phase 3 trial GWPCARE6 (1534). Neurology. Apr 2021;96(suppl 15):1534.Full text

56. Thiele EA, Bebin EM, Bhathal H, et al. Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial. JAMA Neurol. 2021 Mar 1;78(3):285-92. Abstract

57. Park S, Lee EJ, Eom S, et al. Ketogenic diet for the management of epilepsy associated with tuberous sclerosis complex in children. J Epilepsy Res. 2017 Jun;7(1):45-9.Full text  Abstract

58. Jansen FE, van Huffelen AC, Algra A, et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia. 2007 Aug;48(8):1477-84.Full text  Abstract

59. Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat. 2014 Oct 23;10:2021-30.Full text  Abstract

60. 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 Aug;105(3):377-83. Abstract

61. Roth J, Roach ES, Bartels U, et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment - recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol. 2013 Dec;49(6):439-44. Abstract

62. Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Full text  Abstract

63. Nathan N, Wang JA, Li S, et al. Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus. J Am Acad Dermatol. 2015 Nov;73(5):802-8. Abstract

64. Egami A, Takahashi S, Kokubo T, et al. Topical sirolimus 0.2% gel for the management of tuberous sclerosis complex-related cutaneous manifestations: an interim analysis of postmarketing surveillance in Japan. Dermatol Ther (Heidelb). 2023 May;13(5):1113-26.Full text  Abstract

65. 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 Mar 9;381(9869):817-24. Abstract

66. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial. Nephrol Dial Transplant. 2016 Jan;31(1):111-9.Full text  Abstract

67. Peng ZF, Yang L, Wang TT, et al. Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review. J Urol. 2014 Nov;192(5):1424-30. Abstract

68. Nespoli LF, Albani E, Corti C, et al. Efficacy of everolimus low-dose treatment for cardiac rhabdomyomas in neonatal tuberous sclerosis: case report and literature review. Pediatr Rep. 2021 Mar 1;13(1):104-12.Full text  Abstract

69. McCarthy C, Gupta N, Johnson SR, et al. Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management. Lancet Respir Med. 2021 Nov;9(11):1313-27. Abstract

70. Gao N, Zhang T, Ji J, et al. The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis. Orphanet J Rare Dis. 2018 Aug 14;13(1):134.Full text  Abstract

71. Argula RG, Kokosi M, Lo P, et al. A novel quantitative computed tomographic analysis suggests how sirolimus stabilizes progressive air trapping in lymphangioleiomyomatosis. Ann Am Thorac Soc. 2016 Mar;13(3):342-9.Full text  Abstract

72. Courtwright AM, Goldberg HJ, Henske EP, et al. The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. Eur Respir Rev. 2017 Jan 17;26(143):160004.Full text  Abstract

73. Young L, Lee HS, Inoue Y, et al. Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Respir Med. 2013 Aug;1(6):445-52.Full text  Abstract

74. Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest. 1998 Dec;114(6):1689-703. Abstract

75. Karbowniczek M, Astrinidis A, Balsara BR, et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. 2003 Apr 1;167(7):976-82.Full text  Abstract

76. Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007 Dec;11(4):506-13. Abstract

77. Franz DN, Capal JK. mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders. Orphanet J Rare Dis. 2017 Mar 14;12(1):51.Full text  Abstract

78. ClinicalTrials.gov. Trial of RAD001 and neurocognition in tuberous sclerosis complex (TSC). ClinicalTrials.gov identifier: NCT01289912. Jan 2018 [internet publication].Full text

79. ClinicalTrials.gov. A study of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON). ClinicalTrials.gov identifier: NCT01954693. Jan 2018 [internet publication].Full text

80. French JA, Lawson JA, Yapici Z, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016 Oct 29;388(10056):2153-63.Full text  Abstract

81. Berhouma M. Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr. 2010 May;6(2):103-10. Abstract

82. 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 Jan 12;381(9861):125-32. Abstract

83. Franz DN, Belousova E, Sparagana S, et al. Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One. 2016 Jun 28;11(6):e0158476.Full text  Abstract

84. Treiber JM, Curry DJ, Weiner HL, et al. Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals. Childs Nerv Syst. 2020 Oct;36(10):2519-25. Abstract

85. Hancock E, O'Callaghan F, English J, et al. Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin. J Child Neurol. 2005 Jan;20(1):21-5. Abstract

86. Niedermeyer J. Rapamycin for recurrent LAM following lung transplantation - a first experience. Paper presented at LAM Foundation Research Conference. Apr 2003; Cincinnati, OH.

87. Wienecke R, Fackler I, Akdeli N, et al. Effective treatment of TSC with rapamycin. Unpublished data presented at TSC Conference. Sep 2004; Cambridge, UK.