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References
1. Adriaensen, M. E. et al. Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol 16, 691-696, doi:10.1111/j.1468- 1331.2009.02567.x (2009).
2. Dabora, S. L. et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68, 64-80, doi:10.1086/316951 (2001).
3. DiMario, F. J., Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 19, 650-657 (2004).
4. Kwiatkowski, D. J. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of
tuberous sclerosis. Cancer Biol Ther 2, 471-476 (2003).
5. van Slegtenhorst, M. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science 277, 805-808 (1997).
6. European Chromosome 16 Tuberous Sclerosis, C. Identification and characterization of the
tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315 (1993).
7. Mizuguchi, M. & Takashima, S. Neuropathology of tuberous sclerosis. Brain Dev 23, 508-515 (2001).
8. Roth, J. et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment.
Recommendations from the International Tuberous Sclerosis Complex Consensus Conference
2012. Pediatr Neurol 49, 439-444, doi:10.1016/j.pediatrneurol.2013.08.017 (2013).
9. Cuccia, V. et al. Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv
Syst 19, 232-243, doi:10.1007/s00381-002-0700-2 (2003).
10. Jozwiak, S., Mandera, M. & Mlynarski, W. Natural History and Current Treatment Options for
Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Semin Pediatr Neurol 22,
274-281, doi:10.1016/j.spen.2015.10.003 (2015).
11. de Ribaupierre, S. et al. Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis
disease: when should we operate? Neurosurgery 60, 83-89; discussion 89-90, doi:10.1227/01.
NEU.0000249216.19591.5D (2007).
12. Bonnin, J. M., Rubinstein, L. J., Papasozomenos, S. C. & Marangos, P. J. Subependymal giant cell
astrocytoma. Significance and possible cytogenetic implications of an immunohistochemical study.
Acta Neuropathol 62, 185-193 (1984).
13. Buccoliero, A. M. et al. Subependymal giant cell astrocytoma (SEGA): Is it an astrocytoma?
Morphological, immunohistochemical and ultrastructural study. Neuropathology 29, 25-30,
doi:10.1111/j.1440-1789.2008.00934.x (2009).
14. Fujiwara, S., Takaki, T., Hikita, T. & Nishio, S. Subependymal giant-cell astrocytoma associated with
tuberous sclerosis. Do subependymal nodules grow? Childs Nerv Syst 5, 43-44 (1989).
15. Morimoto, K. & Mogami, H. Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. J Neurosurg 65, 874-877, doi:10.3171/jns.1986.65.6.0874
(1986).
16. Chan, J. A. et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic
inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol 63, 1236-1242
(2004).
17. Henske, E. P. et al. Loss of tuberin in both subependymal giant cell astrocytomas and
angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am
J Pathol 151, 1639-1647 (1997).
18. Martin, K. R. et al. The genomic landscape of tuberous sclerosis complex. Nat Commun 8, 15816,
doi:10.1038/ncomms15816 (2017).