CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

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dc.contributor.authorMayo, Sonia
dc.contributor.authorGómez Manjón, Irene
dc.contributor.authorFernández Martínez, Francisco Javier
dc.contributor.authorCamacho Salas, Ana
dc.contributor.authorMartínez, Francisco
dc.contributor.authorBenito Leon, Julián
dc.date.accessioned2023-06-22T10:49:39Z
dc.date.available2023-06-22T10:49:39Z
dc.date.issued2022-04-28
dc.description.abstractEpilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques. However, there are still many cases in which the results of these molecular studies do not fully explain the phenotype of the patients. Somatic mutations specific to brain tissue could contribute to the phenotypic spectrum of epilepsy. Undetectable in the genomic DNA of blood cells, these alterations can be identified in cell-free DNA (cfDNA). We aim to review the current literature regarding the detection of somatic variants in cfDNA to diagnose refractory epilepsy, highlighting novel research directions and suggesting further studies.
dc.description.departmentDepto. de Medicina
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.sponsorshipInstituto de Salud Carlos III (ISCIII)
dc.description.sponsorshipMutua Madrileña Foundation (FMM)
dc.description.statuspub
dc.eprint.idhttps://eprints.ucm.es/id/eprint/73366
dc.identifier.doi10.3390/ijms23094879
dc.identifier.issn1422-0067
dc.identifier.officialurlhttps://doi.org/10.3390/ijms23094879
dc.identifier.relatedurlhttps://www.mdpi.com/1422-0067/23/9/4879/htm
dc.identifier.urihttps://hdl.handle.net/20.500.14352/71738
dc.issue.number9
dc.journal.titleInternational Journal of Molecular Sciences
dc.language.isoeng
dc.page.initial4879
dc.publisherMPDI
dc.relation.projectIDCP20/00154
dc.relation.projectID2019/0144
dc.rightsAtribución 3.0 España
dc.rights.accessRightsopen access
dc.rights.urihttps://creativecommons.org/licenses/by/3.0/es/
dc.subject.keywordcell-free DNA
dc.subject.keywordsomatic mutations
dc.subject.keywordrefractory epilepsy
dc.subject.ucmDiagnóstico por imagen y medicina nuclear
dc.subject.ucmNeurociencias (Medicina)
dc.subject.unesco3204.01 Medicina Nuclear
dc.subject.unesco2490 Neurociencias
dc.titleCfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy
dc.typejournal article
dc.volume.number23
dspace.entity.typePublication
relation.isAuthorOfPublication7dfb41b4-de42-4eb5-9b91-bec38cdcaa8c
relation.isAuthorOfPublication.latestForDiscovery7dfb41b4-de42-4eb5-9b91-bec38cdcaa8c
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