Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A Damiano, Lara McQuillan, Anthony Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J Lockhart, Alexander Dobrovic, Ingrid E Scheffer, Melanie Bahlo, Richard J Leventer, Ryan Lister, Samuel F Berkovic, Michael S Hildebrand. "Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain" Brain Communications Volume 3, Issue 1, 2021, fcaa235, https://doi.org/10.1093/braincomms/fcaa235

"Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. As proof of principle we identified somatic mutations (LIS1 p. Lys64*, TSC1 p. Phe581His*6 and BRAF p. Val600Glu) in cerebrospinal fluid cell-free DNA using droplet digital PCR and determined the cell-free DNA was brain-derived using whole-genome bisulphite sequencing. Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.”

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