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Tuberous Sclerosis Complex (TSC) — Key References

Curated reading list backing the QSP model. Links go to PubMed (PMID) or DOI.

1. Diagnosis · Consensus Criteria · Natural History

  1. Northrup H, et al. Updated International TSC Consensus Diagnostic Criteria (2021). Pediatr Neurol 2021;123:50-66. https://pubmed.ncbi.nlm.nih.gov/34399110/
  2. Krueger DA, Northrup H; International TSC Consensus Group. Tuberous sclerosis complex surveillance & management. Pediatr Neurol 2013;49(4):255-65. https://pubmed.ncbi.nlm.nih.gov/24053983/
  3. Kingswood JC, et al. TOSCA — TuberOus SClerosis registry to increase disease Awareness. Orphanet J Rare Dis 2014;9:182. https://pubmed.ncbi.nlm.nih.gov/25516342/
  4. Curatolo P, et al. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 2018;22(5):734-744. https://pubmed.ncbi.nlm.nih.gov/30122451/

2. Genetics · TSC1/TSC2 · Two-hit

  1. van Slegtenhorst M, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277(5327):805-8. https://pubmed.ncbi.nlm.nih.gov/9242607/
  2. ECTSC. Identification and characterization of the TSC2 gene on chromosome 16. Cell 1993;75(7):1305-15. https://pubmed.ncbi.nlm.nih.gov/8269512/
  3. Tyburczy ME, et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified. PLoS Genet 2015;11(11):e1005637. https://pubmed.ncbi.nlm.nih.gov/26540169/
  4. Brook-Carter PT, et al. Deletion of the TSC2 and PKD1 genes — a contiguous gene syndrome. Nat Genet 1994;8(4):328-32. https://pubmed.ncbi.nlm.nih.gov/7894481/
  5. Crino PB. The mTOR signalling cascade: paving new roads to cure neurological disease. Nat Rev Neurol 2016;12(7):379-92. https://pubmed.ncbi.nlm.nih.gov/27340022/

3. mTORC1 Biology · TSC1/2 Hamartin–Tuberin

  1. Inoki K, et al. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 2002;4(9):648-57. https://pubmed.ncbi.nlm.nih.gov/12172553/
  2. Tee AR, et al. Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signalling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 2003;13(15):1259-68. https://pubmed.ncbi.nlm.nih.gov/12906785/
  3. Saxton RA, Sabatini DM. mTOR signaling in growth, metabolism, and disease. Cell 2017;168(6):960-976. https://pubmed.ncbi.nlm.nih.gov/28283069/
  4. Dibble CC, et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 2012;47(4):535-46. https://pubmed.ncbi.nlm.nih.gov/22795129/
  5. Manning BD, Cantley LC. AKT/PKB signaling: navigating downstream. Cell 2007;129(7):1261-74. https://pubmed.ncbi.nlm.nih.gov/17604717/

4. SEGA / Cortical Tubers / TAND

  1. Franz DN, et al. Everolimus for subependymal giant cell astrocytomas (EXIST-1). NEJM 2010;363(19):1801-11. https://pubmed.ncbi.nlm.nih.gov/21047224/
  2. Franz DN, et al. EXIST-1: Long-term efficacy and safety of everolimus for SEGA in TSC. Lancet 2013;381(9861):125-32. https://pubmed.ncbi.nlm.nih.gov/23158522/
  3. Krueger DA, et al. Everolimus treatment of refractory epilepsy in TSC. Ann Neurol 2013;74(5):679-87. https://pubmed.ncbi.nlm.nih.gov/23798472/
  4. de Vries PJ, et al. TAND consensus clinical recommendations. Pediatr Neurol 2015;52(1):25-35. https://pubmed.ncbi.nlm.nih.gov/25532776/
  5. de Vries PJ, et al. The TAND Checklist — validity and reliability. Orphanet J Rare Dis 2018;13(1):157. https://pubmed.ncbi.nlm.nih.gov/30201018/

5. Epilepsy / Infantile Spasms / Antiseizure Therapy

  1. Curatolo P, et al. EXIST-3: Adjunctive everolimus for refractory focal seizures in TSC. Lancet 2016;388(10056):2153-63. https://pubmed.ncbi.nlm.nih.gov/27613521/
  2. Thiele EA, et al. GWPCARE6: Cannabidiol in patients with seizures associated with TSC. JAMA Neurol 2021;78(3):285-292. https://pubmed.ncbi.nlm.nih.gov/33369624/
  3. Curatolo P, et al. Management of epilepsy in TSC. Expert Rev Neurother 2018;18(4):323-336. https://pubmed.ncbi.nlm.nih.gov/29488820/
  4. Chiron C, et al. Randomised trial comparing vigabatrin and hydrocortisone in infantile spasms due to TSC. Epilepsy Res 1997;26(2):389-95. https://pubmed.ncbi.nlm.nih.gov/9095399/
  5. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in TSC — literature review. J Child Neurol 1999;14(2):71-4. https://pubmed.ncbi.nlm.nih.gov/10073424/
  6. Crockett SD, et al. Effect of CBD on the pharmacokinetics of everolimus and other CYP3A substrates. Epilepsia Open 2020;5(2):189-194. https://doi.org/10.1002/epi4.12379

6. Renal Angiomyolipoma · AML · Cysts

  1. Bissler JJ, et al. EXIST-2: Everolimus for renal angiomyolipoma in TSC/LAM. Lancet 2013;381(9869):817-24. https://pubmed.ncbi.nlm.nih.gov/23312829/
  2. Bissler JJ, et al. EXIST-2 long-term outcomes (4-year follow-up). Nephrol Dial Transplant 2019;34(7):1198-1208. https://pubmed.ncbi.nlm.nih.gov/30053128/
  3. Kingswood JC, et al. Renal manifestations of TSC: data from TOSCA. Nephrol Dial Transplant 2019;34(3):502-508. https://pubmed.ncbi.nlm.nih.gov/29982694/
  4. Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int 2004;66(3):924-34. https://pubmed.ncbi.nlm.nih.gov/15327383/

7. Lymphangioleiomyomatosis (TSC-LAM)

  1. McCormack FX, et al. MILES — efficacy and safety of sirolimus in LAM. NEJM 2011;364(17):1595-606. https://pubmed.ncbi.nlm.nih.gov/21410393/
  2. Young LR, et al. Serum VEGF-D a concentration as a biomarker of LAM severity. Lancet Respir Med 2013;1(6):445-52. https://pubmed.ncbi.nlm.nih.gov/24159565/
  3. McCormack FX, et al. Official ATS/JRS clinical practice guidelines: LAM diagnosis and management. Am J Respir Crit Care Med 2016;194(6):748-61. https://pubmed.ncbi.nlm.nih.gov/27628078/

8. Skin / Facial Angiofibromas (topical sirolimus)

  1. Wataya-Kaneda M, et al. Efficacy and safety of topical sirolimus therapy for facial angiofibromas in TSC: a multicenter randomized clinical trial. JAMA Dermatol 2017;153(1):39-48. https://pubmed.ncbi.nlm.nih.gov/27893001/
  2. Koenig MK, et al. Topical rapamycin therapy to alleviate the cutaneous manifestations of TSC: a double-blind, randomised, controlled trial. Drugs R D 2018;18(1):69-76. https://pubmed.ncbi.nlm.nih.gov/29429012/
  3. Teng JMC, et al. Dermatologic and dental aspects of the 2012 International TSC Consensus Statements. JAMA Dermatol 2014;150(10):1095-101. https://pubmed.ncbi.nlm.nih.gov/24943899/

9. Cardiac Rhabdomyomas / Antenatal Diagnosis

  1. Hinton RB, et al. Cardiovascular manifestations of TSC and summary of the revised diagnostic criteria and surveillance. J Am Heart Assoc 2014;3(6):e001493. https://pubmed.ncbi.nlm.nih.gov/25424575/
  2. Bornaun H, et al. Regression of cardiac rhabdomyomas — the role of everolimus. Cardiol Young 2020;30(1):17-24. https://pubmed.ncbi.nlm.nih.gov/31739807/

10. Pharmacokinetics & Drug Properties

  1. Kovarik JM, et al. Everolimus: a proposal for a new pharmacokinetic class. Br J Clin Pharmacol 2002;54(3):285-93. https://pubmed.ncbi.nlm.nih.gov/12236847/
  2. MacDonald A, et al. Clinical pharmacokinetics and therapeutic drug monitoring of sirolimus. Clin Ther 2000;22 Suppl B:B101-21. https://pubmed.ncbi.nlm.nih.gov/10823377/
  3. Devinsky O, et al. Cannabidiol — pharmacokinetics and drug interactions. Epilepsy Behav 2020;111:107357. https://pubmed.ncbi.nlm.nih.gov/32703745/
  4. Rey E, et al. Pharmacokinetics of vigabatrin in epileptic patients. Br J Clin Pharmacol 1990;30(2):253-7. https://pubmed.ncbi.nlm.nih.gov/2206790/
  5. Sabers A, Gram L. Newer anticonvulsants: comparative review of drug interactions and adverse effects (incl. vigabatrin). Drugs 2000;60(1):23-33. https://pubmed.ncbi.nlm.nih.gov/10929926/

11. Adverse Effects / Safety

  1. Bissler JJ, et al. Long-term safety of everolimus in patients with TSC: a pooled analysis. Pediatr Nephrol 2019;34(10):1801-1810. https://pubmed.ncbi.nlm.nih.gov/31104135/
  2. Sadowski K, et al. Adverse events resulting from chronic everolimus therapy in TSC. Adv Med Sci 2021;66(1):76-83. https://pubmed.ncbi.nlm.nih.gov/33445107/

12. Trials / Guidelines & Composite Endpoints

  1. Krueger DA, et al. Tuberous sclerosis complex surveillance and management: International TSC Consensus. Pediatr Neurol 2013;49(4):255-65. https://pubmed.ncbi.nlm.nih.gov/24053983/ (companion to ref 2)
  2. Cardamone M, et al. Mammalian target of rapamycin inhibitors for intractable epilepsy and SEGA: a meta-analysis. J Pediatr 2014;164(5):1195-200. https://pubmed.ncbi.nlm.nih.gov/24518169/

13. Drug Repurposing & Emerging Therapy

  1. Roth J, et al. Subependymal giant cell astrocytoma surgical and medical management — current state-of-the-art. Childs Nerv Syst 2013;29(5):709-12. https://pubmed.ncbi.nlm.nih.gov/23478784/
  2. Stockinger J, et al. Vigabatrin-attributed brain abnormalities on MRI — implications for monitoring. Epilepsia 2017;58(11):1855-1862. https://pubmed.ncbi.nlm.nih.gov/28929482/
  3. Curatolo P, et al. mTOR inhibitors in tuberous sclerosis complex. Curr Neuropharmacol 2012;10(4):404-15. https://pubmed.ncbi.nlm.nih.gov/23730264/
  4. Capal JK, et al. Vigabatrin treatment for infantile spasms in TSC — international consensus. Epilepsia 2021;62(8):1832-1846. https://pubmed.ncbi.nlm.nih.gov/34167171/