Fig. 1

Pathological mechanism of epilepsy caused by pathological variation. a The CHD2 gene encodes a chromatin remodeling protein, and mutations influence the activation of the H3K4me3 gene, which affects chromosome remodeling. b Neurons, astrocytes, pericytes, endothelial cells and other structures consists of the neurovascular unit, and each structure is combined with each other to maintain the homeostasis of the central nervous system. c GABRG2 and GABRA1 are both the γ-aminobutyric acid (GABA) receptor subunit genes, receptor dysfunction can be caused by the genes pathogenic variation, resulting in increased neuronal excitability and epilepsy. The electrical excitability of GABAergic interneurons, which causes hyperexcitability, could be lowered by defects in voltage-gated sodium channels in response to depolarizations. This the pathological mechanism of SCN1A pathogenic variation leading to epilepsy. d Insufficient glucose delivery to the brain will result in chronic CNS glucose deprivation due to haploinsufficiency of SLC2A1 and mild GLUT1 function loss. The deficiency of this transporter may cause widespread discharges by disrupting the delicate thalamocortical circuitry with a phenotype of early-onset absence epilepsy. SLC6A1 encodes a GAT1 protein whose receptor reabsorbs GABA