Table 2 Essential types of pathways implicating epilepsy-associated genes (gene families) and corresponding epileptic disorders

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