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

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...

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Bibliographic Details
Published in:Annals of neurology 2021-06, Vol.89 (6), p.1248-1252
Main Authors: Kim, Seyeon, Baldassari, Sara, Sim, Nam Suk, Chipaux, Mathilde, Dorfmüller, Georg, Kim, Dong Seok, Chang, Won Seok, Taly, Valérie, Lee, Jeong Ho, Baulac, Stéphanie
Format: Article
Language:English
Subjects:
Brain
Cerebrospinal fluid
Deoxyribonucleic acid
DNA
Dysplasia
Epilepsy
Hyperplasia
Life Sciences
Mosaicism
Mutation
Polymerase chain reaction
Surgery
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Summary: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 polymerase chain reaction. In 3 of 12 epileptic patients with known somatic mutations previously identified in brain tissue, we here provide evidence that brain mosaicism can be detected in the CSF‐derived cfDNA. These findings suggest future opportunities for detecting the mutant allele driving epilepsy in CSF. ANN NEUROL 2021;89:1248–1252
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.26080