| 1. |
Islam MP. Tuberous Sclerosis Complex. Semin Pediatr Neurol, 2021, 37: 100875.
|
| 2. |
Henske EP, Jóźwiak S, Kingswood JC, et al. Tuberous sclerosis complex. Nat Rev Dis Primers, 2016, 2: 16035.
|
| 3. |
Guo D, Zhang B, Han L, et al. Cerebral vascular and blood brain-barrier abnormalities in a mouse model of epilepsy and tuberous sclerosis complex. Epilepsia, 2024, 65(2): 483-496.
|
| 4. |
Curatolo P, Trivisano M, Specchio N. Updated genotype-phenotype correlations in TSC. Semin Pediatr Neurol, 2023, 47: 101086.
|
| 5. |
Ding Y, Zhou Y, Yu L, et al. Correlation between epilepsy and genotype: a large retrospective tuberous sclerosis complex cohort. Seizure, 2021, 91: 273-277.
|
| 6. |
de Saint Martin A, Napuri S, Nguyen S. Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis. Arch Pediatr, 2022, 29(5s): 8-13.
|
| 7. |
He J, Zhou W, Shi J, et al. TSC1 and TSC2 gene mutations in Chinese tuberous sclerosis complex patients clinically characterized by epilepsy. Genet Test Mol Biomarkers, 2020, 24(1): 1-5.
|
| 8. |
Mallela K, Kumar A. Role of TSC1 in physiology and diseases. Mol Cell Biochem, 2021, 476(6): 2269-2282.
|
| 9. |
Kútna V, O'Leary V B, Newman E, et al. Revisiting brain tuberous sclerosis complex in rat and human: shared molecular and cellular pathology leads to distinct neurophysiological and behavioral phenotypes. Neurotherapeutics, 2021, 18(2): 845-858.
|
| 10. |
Togi S, Ura H, Niida Y. Optimization and validation of multimodular, long-range pcr-based next-generation sequencing assays for comprehensive detection of mutation in tuberous sclerosis complex. J Mol Diagn, 2021, 23(4): 424-446.
|
| 11. |
Chakraborty S, Parayil R, Mishra S, et al. Epilepsy characteristics in neurodevelopmental disorders: research from patient cohorts and animal models focusing on autism spectrum disorder. Int J Mol Sci, 2022, 23(18): 11567.
|
| 12. |
Han J M, Sahin M. TSC1/TSC2 signaling in the CNS. FEBS Lett, 2011, 585(7): 973-980.
|
| 13. |
Mizuguchi M, Ohsawa M, Kashii H, et al. Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment. Int J Mol Sci, 2021, 22(13): 569-571.
|
| 14. |
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, et al. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat, 2011, 32(4): 424-435.
|
| 15. |
Warren E C, Dooves S, Lugarà E, et al. Decanoic acid inhibits mTORC1 activity independent of glucose and insulin signaling. Proc Natl Acad Sci USA, 2020, 117(38): 23617-23625.
|
| 16. |
Kannan L, Vogrin S, Bailey C, et al. Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis. Brain, 2016, 139(Pt 10): 2653-2667.
|
| 17. |
Shen N, Zhuo Z, Luo X, et al. Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis : for the China epilepsy gene 1.0 project. Acta Epileptol, 2024, 6(1): 41.
|
| 18. |
Marcinkowska AB, Tarasewicz A, Jóźwiak S, et al. Tuberous sclerosis complex-associated neuropsychiatric disorders. Psychiatr Pol, 2022: 1-20.
|
| 19. |
Schubert-Bast S, Strzelczyk A. Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine. Ther Adv Neurol Disord, 2021, 14: 17562864211031100.
|
| 20. |
Vitale G, Terrone G, Vitale S, et al. The evolving landscape of therapeutics for epilepsy in tuberous sclerosis complex. Biomedicines, 2023, 11(12): 265-268.
|
| 21. |
Conte E, Boccanegra B, Dinoi G, et al. Therapeutic approaches to tuberous sclerosis complex: from available therapies to promising drug targets. Biomolecules, 2024, 14(9): 1156-1162.
|
| 22. |
Russo C, Nastro A, Cicala D, et al. Neuroimaging in tuberous sclerosis complex. Childs Nerv Syst, 2020, 36(10): 2497-2509.
|
| 23. |
Gataullina S, Lemaire E, Wendling F, et al. Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex. Epilepsia, 2016, 57(4): 648-659.
|