Back to research

Research paper

Epilepsy in the mTORopathies — Opportunities for precision medicine

Review of ≥16 distinct mTOR pathway genes producing epilepsy-plus-neurodevelopmental phenotypes; mTOR inhibitors (everolimus) already have labeled epilepsy indications in TSC; precision-medicine framework for the broader mTORopathy family.

Indexed context

Moloney PB, et al.

mtoropathyprecision-medicineepilepsyeverolimus

Markdown path

content/research/papers/2021-mtoropathies-precision-medicine.md

Findings

Review of ≥16 distinct mTOR pathway genes producing epilepsy-plus-neurodevelopmental phenotypes; mTOR inhibitors (everolimus) already have labeled epilepsy indications in TSC; precision-medicine framework for the broader mTORopathy family.

Why it may matter for Levi

Framework reference for the conditional mTOR-pathway-directed therapy treatment item and for positioning Levi's overgrowth + epilepsy phenotype within the mTORopathy spectrum prior to molecular confirmation.

Paper text

Epilepsy in the mTORopathies — Opportunities for precision medicine

Moloney PB, et al. — Brain Communications (2021). https://academic.oup.com/braincomms/article/3/4/fcab222/6375444

Findings summary

Review of ≥16 distinct mTOR pathway genes producing epilepsy-plus-neurodevelopmental phenotypes; mTOR inhibitors (everolimus) already have labeled epilepsy indications in TSC; precision-medicine framework for the broader mTORopathy family.

Relevance to Levi

Framework reference for the conditional mTOR-pathway-directed therapy treatment item and for positioning Levi's overgrowth + epilepsy phenotype within the mTORopathy spectrum prior to molecular confirmation.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
  • No PDF ingested into storage/; canonical link is the URL above.
  • Companion memo: content/research/notes/2026-04-16-literature-pass.md