Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
revised:
26
03
2021
received:
22
12
2020
accepted:
04
04
2021
pubmed:
10
4
2021
medline:
3
8
2021
entrez:
9
4
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1248-1252Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
© 2021 American Neurological Association.
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