Sunday 25 February 2024

JUST TO BE

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Head trauma underlies 6% of all epilepsies in the general population and accounts for 5% of patients seen at specialized epilepsy centers


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Pathogenic mutations in TSC 1 or TSC 2 genes activate the mTOR cascade, resulting in abnormal growth and proliferation in various organs and systems. An understanding of this mechanism provided a unique opportunity to test already available mTOR inhibitor drugs such as rapamycin as a potential therapeutic agent targeting TSC-related tumoral diseases in the brain, kidneys, and lungs (8–10). Later, clinical trials led to the FDA approval of mTOR inhibitor everolimus as a treatment option in selected TSC patients with subependymal giant cell astrocytomas (SEGA) and renal angiomyolipomas


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