Treatment resistant epilepsy in tuberous sclerosis complex (TSC) and some focal cortical dysplasias (FCDs) are associated with dysfunctional mammalian target of rapamycin (mTOR) signaling. This can upregulate cell growth and proliferation, with increased downstream ribosomal S6 protein phosphorylation (phospho-S6). mTOR inhibitors are used in TSC, the archetypal mTORopathy, to reduce tumor growth or seizure frequency. Preclinical studies in FCD support a potential role in suppressing seizures. This pilot study sought to evaluate the safety of the mTOR inhibitor everolimus in treatment-resistant (failure of > 2 anti-seizure medications) TSC and FCD patients undergoing surgical resection and to assess changes in mTOR signaling and molecular pathways.
[doi:10.25345/C54K44]
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: SUDEP ; epilepsy ; plasma ; frozen brain tissue
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Beatrix Ueberheide, NYU School of Medicine, USA |
Submitting User: | KanshinED1 |
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Owner | Reanalyses | |
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