...TSC1, and TSC2 were decreased, p-PI3K, p-Akt (S473), p-Akt (T308), p-mTOR, and mTOR were increased, and the impaired aut...
...TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TS...
...TSC1: TSC complex subunit 1.
...TSC1 or TSC2.,We completed a phase 2 multicenter trial to evaluate the efficacy and tolerability of the mTOR inhibitor, ...
...TSC1 or TSC2, with prominent neurological manifestations including epilepsy, focal cortical dysplasia and neuropsychiatr...
...TSC1 mutation. Somatic, likely activating, mutations in MTOR and RHEB were identified in all other evaluable LOTs. As as...
...TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, gen...
...TSC1, TSC2, and NF1. Overall, these findings refine the molecular landscape of PC and highlight key genes and pathways w...
...TSC1 mouse models. Additionally, several case studies demonstrated a positive effect on seizure frequency and severity i...
...TSC1/2, KCNJ2, KCNJ16, etc., evidence the repression of cellular transcriptional activity and energetic homeostasis modi...
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