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Article

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.

Annals of neurology - 1 Jun 2021

Kim Seyeon, Baldassari Sara, Sim Nam Suk, Chipaux Mathilde, Dorfmüller Georg, Kim Dong Seok, Chang Won Seok, Taly Valérie, Lee Jeong Ho, Baulac Stéphanie

Abstract excerpt

Brain mosaic mutations are a major cause of refractory focal epilepsies with cortical malformations such as focal cortical dysplasia, hemimegalencephaly, malformation of cortical development with oligodendroglial hyperplasia in epilepsy, and ganglioglioma. Here, we collected cerebrospinal fluid (CSF) during epilepsy surgery to search for somatic variants in cell-free DNA (cfDNA) using targeted droplet digital...

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Identifiers

PMID: 33834539
DOI: 10.1002/ana.26080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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