ArticleBrain communications2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 74 citations in OpenAlex.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Differential DNA-methylation of synaptic genes in CSF and blood in schizophrenia.Schizophrenia (Heidelberg, Germany) · 2026Article
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
- Latest clinical frontiers related to autism diagnostic strategies.Cell reports. Medicine · 2025Review
- ILAE genetic literacy series: Focal cortical dysplasia.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy.Frontiers in surgery · 2025Review
- The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.Brain communications · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons.Research square · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Isolation and Characterization of Cell-Free DNA from Cerebral Organoids.International journal of molecular sciences · 2024Article
- Review
- Circulating Cell Free DNA and DNA Double-Strand Breakage in Alzheimer's Disease.Journal of Alzheimer's disease reports · 2024Review
- The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Efficient detection and monitoring of pediatric brain malignancies with liquid biopsy based on patient-specific somatic mutation screening.Neuro-oncology · 2023Article
- The methylome and cell-free DNA: current applications in medicine and pediatric disease.Pediatric research · 2023Review
- Cell-free DNA-based liquid biopsies in neurology.Brain : a journal of neurology · 2023Review
- Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.Brain communications · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.