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Article

Somatic Mosaicism in Brain Disorders.

Annual review of pathology - 1 Jan 2025

Corrigan Rachel R, Mashburn-Warren Lauren M, Yoon Hyojung, Bedrosian Tracy A

Abstract excerpt

Research efforts over the past decade have defined the genetic landscape of somatic variation in the brain. Neurons accumulate somatic mutations from development through aging with potentially profound functional consequences. Recent studies have revealed the contribution of somatic mosaicism to various brain disorders including focal epilepsy, neuropsychiatric disease, and neurodegeneration. One notable finding...

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Identifiers

PMID: 39227323
DOI: 10.1146/annurev-pathmechdis-111523-023528
PMCID: PMC13475584

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