Table 2.
Essential types of pathways implicating epilepsy-associated genes (gene families) and corresponding epileptic disorders
| Type of pathways | Epileptic disorders | Chromosomal loci | Genes |
|---|---|---|---|
| Sodium channels | Developmental and epileptic encephalopathy, 6 (Dravet and non-Dravet types), 11, 13, 52, 62 types; generalized epilepsy with febrile seizures plus, types 1, 2, 7; familial focal epilepsy with variable foci 4; familial febrile seizures 3A and 3B; benign familial infantile seizures 3, 5 types | 2q24.3 | SCN1A, SCN2A, SCN3A, SCN7A/SCN6A, SCN9A |
| 3p22.2 | |||
| 11q23.3 | |||
| Potassium channels | Developmental and epileptic encephalopathy, 7, 14, 24, 57 types; generalized epilepsy with febrile seizures plus, type 10; epilepsy, progressive myoclonic 3, with or without intracellular inclusions; myokymia; benign neonatal seizures, type 1 and 2; cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome; paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; epilepsy, intellectual/developmental delay | 1p13.2-1p13.3 | KCN2A, KCNT2, HCN1, KCNT2, KCNB1, KCNQ1, KCND3, KCNC4, KCNA10 |
| Calcium channels | Developmental and epileptic encephalopathy, 42 and 69 types; primary aldosteronism, seizures, and neurologic abnormalities; susceptibility to childhood absence epilepsy 6; susceptibility to idiopathic generalized epilepsy 6 and 9; susceptibility to juvenile myoclonic epilepsy 6 | 3p21.31-3p14.3 | CACNA1E, PACS2, CACNA1A, CACNA1D, CACNA2D2, CACNA2D3, CACNG6, CACNG7, CACNG8 |
| 19q13.42 | |||
| Chloride channels | Susceptibility to idiopathic generalized epilepsy, 11; susceptibility to juvenile absence epilepsy, 2; susceptibility to juvenile myoclonic epilepsy, 8 | Wide cytogenetic distribution | CLCN family |
| Na/K+ pump | Hypomagnesemia, seizures, and mental retardation 2, Developmental and epileptic encephalopathy 98, 99 and 104 | 1q23.2-1q24.2 | ATP6V1A, PIGB, ATP1A2, ATP1A3, ATP1A2, ATP1A4, ATP1B1, KCNJ10, LY9, FXYD2, FXYD6, HEPACAM, FXYD1, FXYD5, FXYD7 |
| 11q23.3- 11q24.2 | |||
| 19q13.12-19q13.2 | |||
| GABA receptors | Developmental and epileptic encephalopathy 19, 43, 45, 54, 74, 78, 79 types; infantile or early childhood epileptic encephalopathy, 2; familial febrile seizures 8; generalized epilepsy with febrile seizures plus, type 3; susceptibility to generalized epilepsy with febrile seizures plus, type 5; susceptibility to childhood absence epilepsy 4, 5; susceptibility to juvenile myoclonic epilepsy, 5 | 4p12 | GABRA2, GABRB1, GABRB2, GABRA1, GABRG2, GABBR2, GABRB3, GABRA5 |
| 5q34 | |||
| Glycine receptors | Glycine encephalopathy with normal serum glycine | Genes of glycine system have wide cytogenetic distribution | |
| NMDA receptors | Developmental and epileptic encephalopathy 27 and 46 types; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant and autosomal recessive types; focal epilepsy with speech disorder and with or without impaired intellectual development; intellectual developmental disorder, autosomal dominant 6, with or without seizures | 9q31.1-9q34.3 | GRIN1, GRIN2B, GRIN2D, GRIN1, GRIN3A, NSMF |