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Research paper

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

PI3K/AKT pathway mutations cause a spectrum from megalencephaly to FCD, with somatic mosaicism explaining the focal-vs-hemispheric-vs-whole-brain gradient. Tissue-level sequencing required for low-mosaicism detection.

Indexed context

Jansen LA, et al.

pi3k-akt-mtorfcdmegalencephalysomatic-mosaicism

Markdown path

content/research/papers/2015-jansen-pi3k-akt-megalencephaly-fcd.md

Findings

PI3K/AKT pathway mutations cause a spectrum from megalencephaly to FCD, with somatic mosaicism explaining the focal-vs-hemispheric-vs-whole-brain gradient. Tissue-level sequencing required for low-mosaicism detection.

Why it may matter for Levi

Direct imaging/mechanistic reference for MRI neuroradiology re-read through an mTORopathy lens. If Levi's MRI shows even subtle FCD features, this paper anchors the PI3K/AKT pathway work-up as the next logical step.

Paper text

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Jansen LA, et al. — Brain (2015). https://pmc.ncbi.nlm.nih.gov/articles/PMC4614119/

Findings summary

PI3K/AKT pathway mutations cause a spectrum from megalencephaly to FCD, with somatic mosaicism explaining the focal-vs-hemispheric-vs-whole-brain gradient. Tissue-level sequencing required for low-mosaicism detection.

Relevance to Levi

Direct imaging/mechanistic reference for MRI neuroradiology re-read through an mTORopathy lens. If Levi's MRI shows even subtle FCD features, this paper anchors the PI3K/AKT pathway work-up as the next logical step.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
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