한빛사논문
- 조회721
Seyeon Kim, BS1*; Sara Baldassari, PhD2*; Nam Suk Sim, MD, PhD1; Mathilde Chipaux, MD, PhD3; Georg; Dorfmüller, MD3; Dong Seok Kim, MD, PhD4; Won Seok Chang, MD, PhD5; Valérie Taly PhD6, Jeong Ho Lee, MD,PhD1,7+; Stéphanie Baulac, PhD2+
1 Graduate School of Medical Science and Engineering, KAIST, Daejeon, Korea
2 Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, F-75013, Paris, France
3 Department of Pediatric Neurosurgery, Rothschild Foundation Hospital, F-75019, Paris, France
4 Department of Neurosurgery, Pediatric Neurosurgery, Severance Children’s Hospital, Yonsei University College of Medicine, Seoul, Korea
5 Department of neurosurgery, Brain Research Institute, Yonsei University College of Medicine, Seoul, Korea
6 Centre de Recherche des Cordeliers, INSERM UMRS1138, CNRS SNC 5096, Sorbonne Université, USPC, Université de Paris, Equipe labellisée Ligue Nationale contre le cancer, Paris, France
7 SoVarGen, Inc., Daejeon 34051, Korea.
* equally contributed
+ equally contributed
Corresponding authors
Jeong Ho Lee, M.D., Ph.D., Stéphanie Baulac, Ph.D.
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, or ganglioglioma. Here, we collected 1‐6 mL of cerebrospinal fluid (CSF) during epilepsy surgery to search for somatic variants in cell‐free DNA (cfDNA) using targeted droplet digital PCR. In 3/12 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.
논문정보
- Research article
- 2021년 04월 (BRIC 등록일 2021-04-16)
- 국내(교신)+국외 연구진
- 의약학 > 신경의학
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