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The cell-type-specific nature of DNA methylation patterns and the direct relationship between cfDNA and apoptosis can potentially be used non-invasively to predict local alterations. In addition, direct detection of altered DNA methylation patterns performs well as a biomarker. In a previous study, we demonstrated marked DNA methylation alterations in brain tissue from patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE\u2013HS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We performed DNA methylation profiling in cfDNA isolated from the serum of MTLE patients and healthy controls using BeadChip arrays followed by systematic bioinformatic analysis including deconvolution analysis and integration with DNase accessibility data sets. Differential cfDNA methylation analysis showed an overrepresentation of gene ontology terms and transcription factors related to central nervous system function and regulation. Deconvolution analysis of the DNA methylation data sets ruled out the possibility that the observed differences were due to changes in the proportional contribution of cortical neurons in cfDNA. Moreover, we found no overrepresentation of neuron- or glia-specific patterns in the described cfDNA methylation patterns. However, the MTLE\u2013HS cfDNA methylation patterns featured a significant overrepresentation of the epileptic DNA methylation alterations previously observed in the hippocampus.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results support the use of cfDNA methylation profiling as a rational approach to seeking non-invasive and reproducible epilepsy biomarkers.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13148-022-01416-2","type":"journal-article","created":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T22:02:48Z","timestamp":1672178568000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Circulating cell-free DNA methylation mirrors alterations in cerebral patterns in epilepsy"],"prefix":"10.1186","volume":"14","author":[{"given":"Ricardo","family":"Martins-Ferreira","sequence":"first","affiliation":[]},{"given":"B\u00e1rbara","family":"Leal","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Chaves","sequence":"additional","affiliation":[]},{"given":"Laura","family":"Ciudad","sequence":"additional","affiliation":[]},{"given":"Raquel","family":"Sam\u00f5es","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Martins da Silva","sequence":"additional","affiliation":[]},{"given":"Paulo","family":"Pinho Costa","sequence":"additional","affiliation":[]},{"given":"Esteban","family":"Ballestar","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"key":"1416_CR1","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.molmed.2020.01.012","volume":"26","author":"E Heitzer","year":"2020","unstructured":"Heitzer E, Auinger L, Speicher MR. 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All individuals gave their written consent in accordance with the principles of the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"EPIC DNA methylation array data have been deposited in the NCBI\u2019s Gene Expression Omnibus database under accession code GSE208758. All additional data used in this study are available in this article or in the supplementary information.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and materials"}},{"value":"None of the authors reports any conflict of interest.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"188"}}