Table 2 The gene codes for protein function
From: Etiological analysis of 167 cases of drug-resistant epilepsy in children
Code for protein function | Functional subclassification | Gene related to epilepsy(OMIM ) |
|---|---|---|
Ion channel | Voltage-gated sodium channel (Nav) | SCN1A, SCN2A, SCN8A |
Voltage-gated potassium channel (Kv) | KCNQ2, KCNT1, KCNB1 | |
Voltage-Gated Calcium Channel (Cav) | CACNA1A, CACNA1E | |
Voltage-Gated chloride Channel (CIC) | CLCN4 | |
Ligand-gated ion channel GABA receptors | GABRA1 | |
Ligand-gated ion channels glutamate receptors | GRIN2B | |
Enzyme regulators | CDKL5, CHD2, OTC, PAH, PCK1, PIGA | |
Cellular metabolism and Signal | FGF12, DEPDC5, TSC1, TSC2 | |
Cell adhesion molecule (CAM) | L1CAM, PCDH19 | |
Nucleic acid binding protein (NABPS) | SMC1A | |
Mitochondrial gene | DNM1L, MT-TL1, POLG | |
Chromosomal abnormality | Chromosomal 18q deletion syndrome | |
Unknown | RANBP2, STAMBP |