Abstract
Objective:
To study the DNA methylation profiles in brain tissue of patients with refractory epilepsy due to malformations of cortical development (MCDs).
Materials and methods:
Clinical, neuroimaging, and pathology characteristics were defined for 13 patients who underwent resective surgery for epilepsy. Methylation analysis was performed using Illumina® 450k Methylation Microarray. Data analysis was completed, and pathway identification was done using the R/Bioconductor package.
Results:
Genes associated with Ephrin-Reelin pathway, potassium channels, and glutathione metabolism were differentially methylated in the MCD group when compared with patients who had no evidence of MCD.
Conclusions:
Our preliminary data reveal that epigenetic pathways may have a role in the pathobiogenesis of MCDs.
Keywords:
DNA methylation; malformations of cortical development; neurogenetics; refractory epilepsy.
MeSH terms
-
Brain / diagnostic imaging
-
Brain / metabolism*
-
Brain / surgery
-
Cell Adhesion Molecules, Neuronal / genetics
-
Cell Adhesion Molecules, Neuronal / metabolism
-
Child
-
Child, Preschool
-
DNA Methylation*
-
Epilepsy / etiology
-
Epilepsy / genetics*
-
Epilepsy / surgery
-
Extracellular Matrix Proteins / genetics
-
Extracellular Matrix Proteins / metabolism
-
Female
-
Humans
-
Infant
-
Male
-
Malformations of Cortical Development / complications
-
Malformations of Cortical Development / genetics*
-
Malformations of Cortical Development / surgery
-
Nerve Tissue Proteins / genetics
-
Nerve Tissue Proteins / metabolism
-
Pilot Projects
-
Potassium Channels / genetics
-
Potassium Channels / metabolism
-
Reelin Protein
-
Serine Endopeptidases / genetics
-
Serine Endopeptidases / metabolism
-
Signal Transduction / genetics
Substances
-
Cell Adhesion Molecules, Neuronal
-
Extracellular Matrix Proteins
-
Nerve Tissue Proteins
-
Potassium Channels
-
Reelin Protein
-
RELN protein, human
-
Serine Endopeptidases