Table 2 Epigenetically modified DEGs with potential role in FCD type II pathophysiology.
Gene IDa | Gene name | Function |
|---|---|---|
RTK and mTOR signalling | ||
EGFR/R | Epidermal growth factor receptor | Governs cell fate specification, cell proliferation, migration in the neural stem cell compartment, and glial development |
PDGFRA/R | Platelet- derived growth factor receptor alpha | Regulation of embryonic development, Cell proliferation, survival, and chemotaxis |
NTRK3/R | Neurotrophic tyrosine receptor kinase (TRK) | Cell differentiation |
RPS6KA3/N | Ribosomal S6 kinase 3 | mTOR signalling, synaptic plasiticity, ribosome biogenesis, and extraribosomal functions like synthesis of rRNA |
PRKAA1/N | Protein Kinase AMP-Activated Catalytic Subunit Alpha 1 | Negative regulation of the mTORC1 signalling |
Synaptic transmission | ||
KCNJ10/R | Potassium Voltage-gated Channel Subfamily J member 10 | Regulate neurotransmitter release and Neuronal excitability |
KCNH8/N | Potassium Voltage-gated Channel Subfamily H | Regulate neurotransmitter release and Neuronal excitability |
SNPH/N | Syntaphilin | Inhibits SNARE complex formation, mitochondrial trafficking, and neurodegeneration |
DLG1/R | Discs Large MAGUK Scaffold Protein 1 | Modulates synaptic organization during development and Plasticity |
PPA2B/LPPR3/N | Lipid phosphate phosphatase-related proteins | Putative roles in axonal outgrowth, regeneration, and synaptic plasticity |
Neuronal development and cell-cell interactions | ||
NEUROD1/R | Neurogenic differentiation 1 | Neurogenesis and control of differentiation of neural cell types |
EMX1/N | Empty Spiracles Homeobox 1 | Neurogenesis and control of differentiation of neural cell types |
NKX61/N | NK6 Homeobox 1 | Neurogenesis and control of differentiation of neural cell types |
LHX2/N | LIM Homeobox 2 | Neurogenesis and control of differentiation of neural cell types |
NR4A3/R | Nuclear Receptor Subfamily 4 Group A Member 3 | Mediates CREB-induced neuronal survival |
NR2E1/N | Nuclear Receptor Subfamily 2 Group E Member 1 | Neurogenesis and control of differentiation of neural cell types |
ECT2/N | Epithelial cell transforming 2 | Regulation of neurite outgrowth |
BCL6/N | B-cell lymphoma 6 | Neuroprotection, generation of cortical neurons during embryonic brain development |
TIAM1/N | T-Cell Lymphoma invasion and metastasis 1 | Neuronal migration |
NF-kB 2/R | Nuclear factor kappa-light-chain-enhancer of activated B cells | Controls transcription of DNA, cytokine production, and cell survival. |
BRCA1/N | Breast Cancer 1 | Positioning of neurons and guides the organization of brain layers to ensure normal development |
NCAM 1/R | Neural cell adhesion molecule | Role in cell adhesion and synaptic plasticity |
DNER/N | Delta/Notch Like EGF Repeat Containing | Activation of the NOTCH1 pathway |
NLGN1/N | Neuroligin 1 | Role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins |
UNC5B/N | Unc-5 Netrin Receptor B | Involved in pro- and anti-apoptotic processes |
