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References
1. Blumcke, I. et al. Low-grade epilepsy-associated neuroepithelial tumours - the 2016 WHO classification. Nat Rev Neurol 12, 732-740, doi:10.1038/nrneurol.2016.173 (2016).
2. Sturm, D., Pfister, S. M. & Jones, D. T. W. Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management. J Clin Oncol 35, 2370-2377, doi:10.1200/JCO.2017.73.0242 (2017).
3. European Chromosome 16 Tuberous Sclerosis, C. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315, doi:10.1016/0092-8674(93)90618-z (1993).
4. van Slegtenhorst, M. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science 277, 805-808, doi:10.1126/science.277.5327.805 (1997).
5. Osborne, J. P., Fryer, A. & Webb, D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615, 125-
127, doi:10.1111/j.1749-6632.1991.tb37754.x (1991).
6. Sampson, J. R. et al. Evidence for genetic heterogeneity in tuberous sclerosis. J Med Genet 26, 511-
516, doi:10.1136/jmg.26.8.511 (1989).
7. Giannikou, K. et al. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features,
and risk of disease transmission. Genet Med 21, 2639-2643, doi:10.1038/s41436-019-0562-6 (2019).
8. Henske, E. P., Jozwiak, S., Kingswood, J. C., Sampson, J. R. & Thiele, E. A. Tuberous sclerosis complex.
Nat Rev Dis Primers 2, 16035, doi:10.1038/nrdp.2016.35 (2016).
9. Knudson, A. G., Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A
68, 820-823, doi:10.1073/pnas.68.4.820 (1971).
10. Tyburczy, M. E. et al. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients
with No Mutation Identified by Conventional Testing. PLoS Genet 11, e1005637, doi:10.1371/journal.
pgen.1005637 (2015).
11. Crino, P. B., Aronica, E., Baltuch, G. & Nathanson, K. L. Biallelic TSC gene inactivation in tuberous
sclerosis complex. Neurology 74, 1716-1723, doi:10.1212/WNL.0b013e3181e04325 (2010).
12. Henske, E. P. et al. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes
Chromosomes Cancer 13, 295-298, doi:10.1002/gcc.2870130411 (1995).
13. Giannikou, K. et al. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary
and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet 12, e1006242,
doi:10.1371/journal.pgen.1006242 (2016).
14. Henske, E. P. et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain
lesions. Am J Hum Genet 59, 400-406 (1996).
15. Cai, X. et al. Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in
patients with lymphangioleiomyomatosis. Am J Respir Crit Care Med 182, 1410-1418, doi:10.1164/
rccm.201003-0489OC (2010).
16. Zordan, P. et al. Tuberous sclerosis complex-associated CNS abnormalities depend on
hyperactivation of mTORC1 and Akt. J Clin Invest 128, 1688-1706, doi:10.1172/JCI96342 (2018).
17. Way, S. W. et al. Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex
in the mouse. Hum Mol Genet 18, 1252-1265, doi:10.1093/hmg/ddp025 (2009).
18. Magri, L. et al. Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell 9, 447-462,
doi:10.1016/j.stem.2011.09.008 (2011).
19. Zhou, J. et al. Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to
subependymal lesions in the lateral ventricle. Genes Dev 25, 1595-1600, doi:10.1101/gad.16750211