Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Karl Martin KleinRumika MascarenhasDaria MerrikhMaryam KhanbabaeiTatiana MaroilleyNavprabhjot KaurYiping LiuTyler SouleMinette ManaloGoichiro TamuraJulia JacobsWalter HaderGerald PfefferMaja Tarailo-GraovacPublished in: Epilepsia (2024)
Our findings confirm that harvesting neuronal DNA from depth electrodes followed by molecular analysis to identify brain somatic variants is feasible. Our novel method represents a significant improvement compared to the previous method by focusing the analysis on high-quality cells of the cell type of interest.
Keyphrases
- circulating tumor
- cerebral ischemia
- induced apoptosis
- cell free
- single molecule
- copy number
- optical coherence tomography
- cell cycle arrest
- energy transfer
- carbon nanotubes
- cell proliferation
- nucleic acid
- case report
- resting state
- cell death
- endoplasmic reticulum stress
- solid state
- subarachnoid hemorrhage
- oxidative stress
- signaling pathway
- gene expression
- blood brain barrier
- genome wide
- quantum dots
- pi k akt
- data analysis
- electron transfer