Flinter FA, Neville BG. Examining the parents of children with tuberous sclerosis. Lancet. 1986 Nov 15. 2(8516):1167. [QxMD MEDLINE Link].
Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet. 1994 May. 58:107-27. [QxMD MEDLINE Link].
Franz DN. Diagnosis and management of tuberous sclerosis complex. Semin Pediatr Neurol. 1998 Dec. 5(4):253-68. [QxMD MEDLINE Link].
Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. 1994 Mar. 130(3):348-54. [QxMD MEDLINE Link].
Roach ES, Delgado MR. Tuberous sclerosis. Dermatol Clin. 1995 Jan. 13(1):151-61. [QxMD MEDLINE Link].
Ellisen LW. Growth control under stress: mTOR regulation through the REDD1-TSC pathway. Cell Cycle. 2005 Nov. 4(11):1500-02. [QxMD MEDLINE Link].
Karbowniczek M, Henske EP. The role of tuberin in cellular differentiation: are B-Raf and MAPK involved?. Ann N Y Acad Sci. 2005 Nov. 1059:168-73. [QxMD MEDLINE Link].
van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet. 1998 Jun. 7(6):1053-7. [QxMD MEDLINE Link].
Korotkov A, Sim NS, Luinenburg MJ, et al. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathol Appl Neurobiol. 2021 Oct. 47 (6):796-811. [QxMD MEDLINE Link].
Wang W, Li J, Tan J, Wang M, Yang J, Zhang ZM, et al. Endonuclease G promotes autophagy by suppressing mTOR signaling and activating the DNA damage response. Nat Commun. 2021 Jan 20. 12 (1):476. [QxMD MEDLINE Link].
Ko CJ, Zhang L, Jie Z, Zhu L, Zhou X, Xie X, et al. The E3 ubiquitin ligase Peli1 regulates the metabolic actions of mTORC1 to suppress antitumor T cell responses. EMBO J. 2021 Jan 15. 40 (2):e104532. [QxMD MEDLINE Link].
Najafov A, Luu HS, Mookhtiar AK, Mifflin L, Xia HG, Amin PP, et al. RIPK1 Promotes Energy Sensing by the mTORC1 Pathway. Mol Cell. 2021 Jan 21. 81 (2):370-385.e7. [QxMD MEDLINE Link].
Wong M. The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex. J Neurodev Disord. 2019 Dec 16. 11 (1):30. [QxMD MEDLINE Link].
Cukovic D, Bagla S, Ukasik D, Stemmer PM, Jena BP, Naik AR, et al. Exosomes in Epilepsy of Tuberous Sclerosis Complex: Carriers of Pro-Inflammatory MicroRNAs. Noncoding RNA. 2021 Jul 10. 7 (3):[QxMD MEDLINE Link].
Wand O, Blum S, Shachar E, et al. Tuberous sclerosis in a military pilot. Aviat Space Environ Med. 2009 Jul. 80(7):657-9. [QxMD MEDLINE Link].
Roach ES, DiMario FJ, Kandt RS, Northrup H. Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 1999 Jun. 14(6):401-7. [QxMD MEDLINE Link].
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998 Dec. 13(12):624-8. [QxMD MEDLINE Link].
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct. 49 (4):243-54. [QxMD MEDLINE Link].
Greenwald MJ, Paller AS. Ocular and dermatologic manifestation of neurocutaneous syndromes. Dermatol Clin. 1992 Jul. 10(3):623-39. [QxMD MEDLINE Link].
Cardona R, Cancel-Artau KJ, Carrasquillo OY, Martin-Garcia RF. Folliculocystic and Collagen Hamartoma: A Distinct Hamartoma Associated With Tuberous Sclerosis Complex. Am J Dermatopathol. 2021 Jan 1. 43 (1):67-70. [QxMD MEDLINE Link].
Cartron AM, Treichel AM, Pithadia DJ, Moss J, Darling TN. Hair graying may occur early in life in tuberous sclerosis complex and is distinct from poliosis. J Am Acad Dermatol. 2021 Mar. 84 (3):788-790. [QxMD MEDLINE Link].
Koguchi-Yoshioka H, Tanemura A, Katayama I, Fujimoto M, Wataya-Kaneda M. Hypohidrosis in the macules in tuberous sclerosis complex and neurofibromatosis. J Dermatol. 2021 Mar. 48 (3):418-419. [QxMD MEDLINE Link].
Lu Q, Shi XY, Wang YY, Zhang MN, Wang WZ, Wang J, et al. Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex. Orphanet J Rare Dis. 2020 Jun 12. 15 (1):147. [QxMD MEDLINE Link].
Cross JH. Neurocutaneous syndromes and epilepsy-issues in diagnosis and management. Epilepsia. 2005. 46 Suppl 10:17-23. [QxMD MEDLINE Link].
Nabbout R, Belousova E, Benedik MP, et al. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open. 2019 Mar. 4 (1):73-84. [QxMD MEDLINE Link].
Sidira C, Vargiami E, Dragoumi P, Zafeiriou DI. Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association. Eur J Paediatr Neurol. 2021 Jan. 30:58-65. [QxMD MEDLINE Link].
Quigg M, Miller JQ. Clinical findings of the phakomatoses: tuberous sclerosis. Neurology. 2005 Nov 22. 65(10):E22-3. [QxMD MEDLINE Link].
Bacci GM, Polizzi S, Mari F, Conti V, Caputo R, Guerrini R. Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. J Neuroophthalmol. 2021 Sep 1. 41 (3):e363-e365. [QxMD MEDLINE Link].
Williams JM, Racadio JM, Johnson ND, Donnelly LF, Bissler JJ. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis. 2006 Jan. 47(1):95-102. [QxMD MEDLINE Link].
Al Qahtani MS, Bojal SA, Alqarzaie AA, Alqahtani AA. Insulinoma in tuberous sclerosis: An entity not to be missed. Saudi Med J. 2021 Mar. 42 (3):332-337. [QxMD MEDLINE Link].
Sauter M, Belousova E, Benedik MP, et al. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet J Rare Dis. 2021 Jul 6. 16 (1):301. [QxMD MEDLINE Link].
Altman NR, Purser RK, Post MJ. Tuberous sclerosis: characteristics at CT and MR imaging. Radiology. 1988 May. 167(2):527-32. [QxMD MEDLINE Link].
Viswanath V, Thakur P, Pund P. Use of Topical Rapamycin in Facial Angiofibromas in Indian Skin Type. Indian J Dermatol. 2016 Jan-Feb. 61 (1):119. [QxMD MEDLINE Link].
Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Belousova E, Frost MD, et al. Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study. PLoS One. 2017. 12 (8):e0180939. [QxMD MEDLINE Link].
Tuberous Sclerosis Association. Clinical guidelines for the care of patients with Tuberous Sclerosis Complex. England: Birmingham; September 2011. [Full Text].
Hussain SA, Schmid E, Peters JM, Goyal M, Bebin EM, Northrup H, et al. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. Epilepsy Res. 2018 Dec. 148:1-7. [QxMD MEDLINE Link].
Chen PL, Hong JB, Shen LJ, Chen YT, Wang SJ, Liao YH. The efficacy and safety of topical rapamycin-calcitriol for facial angiofibromas in patients with tuberous sclerosis complex: a prospective, double-blind, randomized clinical trial. Br J Dermatol. 2020 Oct. 183 (4):655-663. [QxMD MEDLINE Link].
Dos Santos Junior EF, de Lemos Gitirana RR, Bezerra DP, de Oliveira JRM. Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model. J Mol Neurosci. 2018 Jan. 64 (1):140-143. [QxMD MEDLINE Link].
Vlaskamp C, Poil SS, Jansen F, Linkenkaer-Hansen K, Durston S, Oranje B, et al. Bumetanide As a Candidate Treatment for Behavioral Problems in Tuberous Sclerosis Complex. Front Neurol. 2017. 8:469. [QxMD MEDLINE Link].
Zhou H, Shang C, Wang M, Shen T, Kong L, Yu C, et al. Ciclopirox olamine inhibits mTORC1 signaling by activation of AMPK. Biochem Pharmacol. 2016 Sep 15. 116:39-50. [QxMD MEDLINE Link].
Kovalenko A, Sanin A, Kosmas K, Zhang L, Wang J, Akl EW, et al. Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex. Cancer Res. 2021 Apr 15. 81 (8):2086-2100. [QxMD MEDLINE Link].
Abdelwahab EMM, Bovari-Biri J, Smuk G, Harko T, Fillinger J, Moldvay J, et al. Normalization of Enzyme Expression and Activity Regulating Vitamin A Metabolism Increases RAR-Beta Expression and Reduces Cellular Migration and Proliferation in Diseases Caused by Tuberous Sclerosis Gene Mutations. Front Oncol. 2021. 11:644592. [QxMD MEDLINE Link].
Quartier J, Lapteva M, Boulaguiem Y, Guerrier S, Kalia YN. Polymeric micelle formulations for the cutaneous delivery of sirolimus: A new approach for the treatment of facial angiofibromas in tuberous sclerosis complex. Int J Pharm. 2021 Jul 15. 604:120736. [QxMD MEDLINE Link].
Li M, Zhou Y, Chen C, Yang T, Zhou S, Chen S, 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. [QxMD MEDLINE Link].
Saffari A, Brösse I, Wiemer-Kruel A, et al. Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. Orphanet J Rare Dis. 2019 May 3. 14 (1):96. [QxMD MEDLINE Link].
Kotulska K, Kwiatkowski DJ, Curatolo P, et al. Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Ann Neurol. 2021 Feb. 89 (2):304-314. [QxMD MEDLINE Link].
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, 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):285-292. [QxMD MEDLINE Link].
Cortell Fuster C, Martínez Gómez MA, Cercós Lleti AC, Climente Martí M. Topical rapamycin in the treatment of facial angiofibromas in tuberous sclerosis: a systematic review based on evidence. J Dermatolog Treat. 2021 Apr 6. 1-7. [QxMD MEDLINE Link].
Oh J, Kim J, Lee WJ, Lee JH. Use of Topical Rapamycin as Maintenance Treatment after a Single Session of Fractionated CO2 Laser Ablation: A Method to Enhance Percutaneous Drug Delivery. Ann Dermatol. 2019 Oct. 31 (5):555-558. [QxMD MEDLINE Link].
Valvezan AJ, McNamara MC, Miller SK, Torrence ME, Asara JM, Henske EP, et al. IMPDH inhibitors for antitumor therapy in tuberous sclerosis complex. JCI Insight. 2020 Apr 9. 5 (7):[QxMD MEDLINE Link].
Kuo CJ, Huang CC, Chou SY, Lo YC, Kao TJ, Huang NK, et al. Potential therapeutic effect of curcumin, a natural mTOR inhibitor, in tuberous sclerosis complex. Phytomedicine. 2019 Feb 15. 54:132-139. [QxMD MEDLINE Link].
Galligan ER, Fix L, Levin LE, Imundo L, Yamashiro DJ, Garzon MC. Erythema nodosum arising during everolimus therapy for tuberous sclerosis complex. Pediatr Dermatol. 2018 Jul. 35 (4):e235-e236. [QxMD MEDLINE Link].
Treiber JM, Curry DJ, Weiner HL, Roth J. Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals. Childs Nerv Syst. 2020 Oct. 36 (10):2519-2525. [QxMD MEDLINE Link].
de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan. 52 (1):25-35. [QxMD MEDLINE Link].
Krueger DA, 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 Oct. 49 (4):255-65. [QxMD MEDLINE Link].