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Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
Author(s) -
Kim Seyeon,
Baldassari Sara,
Sim Nam Suk,
Chipaux Mathilde,
Dorfmüller Georg,
Kim Dong Seok,
Chang Won Seok,
Taly Valérie,
Lee Jeong Ho,
Baulac Stéphanie
Publication year - 2021
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.26080
Subject(s) - cortical dysplasia , epilepsy , cerebrospinal fluid , somatic cell , hemimegalencephaly , epileptogenesis , pathology , mutation , medicine , dysplasia , biology , neuroscience , genetics , gene
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