Cited 39 times in
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
DC Field | Value | Language |
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dc.contributor.author | 김동석 | - |
dc.contributor.author | 장원석 | - |
dc.date.accessioned | 2022-09-14T01:25:32Z | - |
dc.date.available | 2022-09-14T01:25:32Z | - |
dc.date.issued | 2021-06 | - |
dc.identifier.issn | 0364-5134 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/190445 | - |
dc.description.abstract | 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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Wiley-Liss | - |
dc.relation.isPartOf | ANNALS OF NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Brain* | - |
dc.subject.MESH | Cell-Free Nucleic Acids / cerebrospinal fluid* | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Drug Resistant Epilepsy / cerebrospinal fluid | - |
dc.subject.MESH | Drug Resistant Epilepsy / genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation | - |
dc.title | Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurosurgery (신경외과학교실) | - |
dc.contributor.googleauthor | Seyeon Kim | - |
dc.contributor.googleauthor | Sara Baldassari | - |
dc.contributor.googleauthor | Nam Suk Sim | - |
dc.contributor.googleauthor | Mathilde Chipaux | - |
dc.contributor.googleauthor | Georg Dorfmüller | - |
dc.contributor.googleauthor | Dong Seok Kim | - |
dc.contributor.googleauthor | Won Seok Chang | - |
dc.contributor.googleauthor | Valérie Taly | - |
dc.contributor.googleauthor | Jeong Ho Lee | - |
dc.contributor.googleauthor | Stéphanie Baulac | - |
dc.identifier.doi | 10.1002/ana.26080 | - |
dc.contributor.localId | A00402 | - |
dc.contributor.localId | A03454 | - |
dc.relation.journalcode | J00166 | - |
dc.identifier.eissn | 1531-8249 | - |
dc.identifier.pmid | 33834539 | - |
dc.identifier.url | https://onlinelibrary.wiley.com/doi/10.1002/ana.26080 | - |
dc.contributor.alternativeName | Kim, Dong Seok | - |
dc.contributor.affiliatedAuthor | 김동석 | - |
dc.contributor.affiliatedAuthor | 장원석 | - |
dc.citation.volume | 89 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 1248 | - |
dc.citation.endPage | 1252 | - |
dc.identifier.bibliographicCitation | ANNALS OF NEUROLOGY, Vol.89(6) : 1248-1252, 2021-06 | - |
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