Bibliography
- Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657-8
- Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-56
- Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008;38:936-52
- Budde K, Gaedeke J. Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis 2012;59:276-83
- Northrup H, Krueger DA; on behalf of the 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;49:243-54
- Krueger DA, Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49:255-65
- Curatolo P, Maria BL. Tuberous sclerosis. Handb Clin Neurol 2013;111:323-31
- Franz DN. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis. Expert Rev Anticancer Ther 2011;11:1181-92
- Sun P, Krueger D, Liu J, et al. Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study. Curr Med Res Opin 2012;28:651-6
- Adriaensen ME, Schaefer-Prokop CM, Stijnen T, et al. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol 2009;16:691-6
- Shepherd CW, Gomez MR, Lie JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991;66:792-6
- Crino PB. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol (Berl) 2013;125:317-32
- Krueger DA. Management of CNS-related disease manifestations in patients with tuberous sclerosis complex. Curr Treat Options Neurol 2013;15:618-33
- Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol 2011;118:e15-20
- Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int 2004;66:924-34
- Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics 2010;41:199-208
- Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000;75:591-4
- 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;13:731-41
- European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15
- van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8
- Lebwohl D, Anak O, Sahmoud T, et al. Development of everolimus, a novel oral mTOR inhibitor, across a spectrum of diseases. Ann NY Acad Sci 2013;1291:14-32
- Huang J, Manning BD. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J 2008;412:179-90
- Au S-K, Williams AT, Gambello HT, et al. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol 2004;19:186-93
- Wong M. mTOR as a potential treatment target for epilepsy. Future Neurol 2012;7:537-45
- Chan JA, Zang H. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol 2004;63:1236-42
- Carson RP, Fu C, Winzenburger P, Ess KC. Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex. Hum Mol Genet 2013;22:140-52
- Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol 2013;23:45-59
- Jozwiak S, Nabbout R, Curatolo P. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 2013;17:348-52
- Amin S, Carter M, Edwards RJ, et al. The outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complex. Eur J Paediatr Neurol 2013;17:36-44
- Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 2004;63:1457-61
- de Ribaupierre S, Dorfmuller G, Bulteau C, et al. Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery 2007;60:83-9
- Sun P, Kohrman M, Liu J, et al. Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. Curr Med Res Opin 2012;28:657-63
- Moavero R, Pinci M, Bombardieri R, et al. The management of subependymal giant cell tumors in tuberous sclerosis: a clinician’s perspective. Childs Nerv Syst 2011;27:1203-10
- Campen CJ, Porter BE. Subependymal giant cell astrocytoma (SEGA) treatment update. Curr Treat Options Neurol 2011;13:380-5
- Zeng LH, Xu L, Gutmann DH, et al. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 2008;63:444-53
- 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;28:5422-32
- Pollizzi K, Malinowska-Kolodziej I, Stumm M, et al. Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer 2009;8:38
- U.S. National Institute of Health. Clinical Trials Gov Web Site. Available from: http://clinicaltrials.gov/ct2/home [Last accessed 15 January 2013]
- Novartis Pharmaceuticals Corp. Afinitor (everolimus tablets for oral administration) [prescribing information]; Afinitor Disperz (everolimus tablets for oral suspension) [prescribing information]. Novartis Pharmaceuticals Corp; East Hanover, NJ: 2012
- Dabora SL, Franz DN, Ashwal S, et al. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF-D levels decrease. PLoS One 2011;6:e23379
- Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008;358:140-51
- Davies DM, de Vries PJ, Johnson SR, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011;17:4071-81
- Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006;59:490-8
- Lam C, Bouffet E, Tabori U, et al. Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. Pediatr Blood Cancer 2010;54:476-9
- Birca A, Mercier C, Major P. Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. J Neurosurg Pediatr 2010;6:381-4
- Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol 2008;23:1238-9
- Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010;363:1801-11
- Franz DN, Agricola KD, Tudor CA, et al. Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. J Child Neurol 2013;28:602-7
- Krueger D, Care M, Agricola K, et al. Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. Neurology 2013;80:574-80
- Tillema JM, Leach JL, Krueger DA, et al. Everolimus alters white matter diffusion in tuberous sclerosis complex. Neurology 2012;78:526-31
- Wong AM, Wang HS, Schwartz ES, et al. Cerebral diffusion tensor MR tractography in tuberous sclerosis complex: correlation with neurologic severity and tract-based spatial statistical analysis. Am J Neuroradiol 2013;34:1829-35
- Peters JM, Sahin M, Vogel-Farley VK, et al. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol 2012;19:17-25
- 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;381:125-32
- Franz DN, Jozwiak S, Belousova E, et al. EXIST-1: effect of everolimus on subependymal giant cell astrocytoma in patients with tuberous sclerosis complex. Poster presented at: American Epilepsy Society Meeting; 2 – 6 December 2011; Baltimore, MD
- Krueger DA, Wilfong AA, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol 2013; doi: 10.1002/ana.23960 [Epub ahead of print]
- Wiegand G, May TW, Ostertag P, et al. Everolimus in tuberous sclerosis patients with intractable epilepsy: a treatment option? Eur J Paediatr Neurol 2013;17(6):631-38
- Cappellano AM, Senerchia AA, Adolfo F, et al. Successful everolimus therapy for SEGA in pediatric patients with tuberous sclerosis complex. Childs Nerv Syst 2013; Epub ahead of print
- Yalon M, Ben-Sira L, Constantini S, et al. Regression of subependymal giant cell astrocytomas with RAD001 (everolimus) in tuberous sclerosis complex. Childs Nerv Syst 2011;27:179-81
- Perek-Polnik M, Jozwiak S, Jurkiewicz E, et al. Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. Eur J Paediatr Neurol 2012;16:83-5
- Agricola K, Tudor C, Krueger D, et al. Nursing implications for the lifelong management of tuberous sclerosis complex. J Neurosci Nurs 2013;45:223-39
- Kotulska K, Chmielewski D, Borkowska J, et al. Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. Eur J Paediatr Neurol 2013;17:479-85
- Kotulska K, Borkowska J, Jozwiak S. Possible prevention of tuberous sclerosis complex lesions. Pediatrics 2013;132:e239-42
- Simao GN, Zarei MS, Snead OC, et al. Abnormal axial diffusivity in the deep gray nuclei and dorsal brain stem in infantile spasm treated with vigabatrin. AJNR Am J Neuroradiol 2011;32:199-203
- Pearl PL, Vezina LG, Saneto RP, et al. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia 2009;50:184-94