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Research paper

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR

ddPCR on brain tissue required to detect low-mosaicism somatic variants; peripheral blood often misses them. ~80% of mutated FCD type II cases have brain mosaic rates <5% — below the sensitivity of standard sequencing.

Indexed context

D'Gama AM, et al.

pi3k-akt-mtorsomatic-mosaicismddpcrfcd

Markdown path

content/research/papers/2021-dgama-somatic-pi3k-akt-mtor-ddpcr.md

Findings

ddPCR on brain tissue required to detect low-mosaicism somatic variants; peripheral blood often misses them. ~80% of mutated FCD type II cases have brain mosaic rates <5% — below the sensitivity of standard sequencing.

Why it may matter for Levi

Sets expectations if blood-only WES is negative and a high-yield overgrowth/FCD phenotype remains on the table: affected-tissue (resected brain) sampling may be required. Informs how confident a negative blood WES should make us about the PI3K-AKT-mTOR hypothesis.

Paper text

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR

D'Gama AM, et al. — medRxiv (2021). https://www.medrxiv.org/content/10.1101/2021.06.09.21257462v1.full

Findings summary

ddPCR on brain tissue required to detect low-mosaicism somatic variants; peripheral blood often misses them. ~80% of mutated FCD type II cases have brain mosaic rates <5% — below the sensitivity of standard sequencing.

Relevance to Levi

Sets expectations if blood-only WES is negative and a high-yield overgrowth/FCD phenotype remains on the table: affected-tissue (resected brain) sampling may be required. Informs how confident a negative blood WES should make us about the PI3K-AKT-mTOR hypothesis.

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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