Table 4.
Genetic loci identified and recommended for genetic testing in epilepsy by ILAE
| Locus | Gene | Product | Phenotype | ILAE |
|---|---|---|---|---|
| 1q21-23 | ATP1A2 | Sodium-potassium ATPase | RE | * |
| 19p13 | CACNA1A | Cav2.1 (calcium channel) | AE | * |
| 8p21 | CHRNA2 | α2 subunit (nACh receptor) | ADNFLE | * |
| 20q13.2-q13.3 | CHRNA4 | α4 subunit (nACh receptor) | ADNFLE | * |
| 1q21 | CHRNB2 | β2 subunit (nACh receptor) | ADNFLE | * |
| 6p12-p11 | EFHC1 | EF-hand motif protein | JME | * |
| 5q34-q35 | GABRA1 | α1 subunit (GABAR) | JME | * |
| 5q34 | GABRG2 | γ2 subunit (GABAR) | GEFS+ | * |
| 15q12 | GABRB3 | GABAR, beta 3 | CEA | |
| 16p13.2 | GRIN2A | Glutamate receptor, ionotropic, NMDA 2A | RE | |
| 12p13 | KCNA1 | Kv1.1 (potassium channel) | FE | * |
| 10q22 | KCNMA1 | Calcium-activated potassium channels | GE | * |
| 3q26.3-q27 | KCNMB3 | Potassium large conductance calcium-activated channel, subfamily M beta 3 | JAE | |
| 1q23.2 | KCNJ10 | Potassium inwardly rectifying channel, subfamily J, member 10 | IGE | |
| 20q13.3 | KCNQ2 | Kv7.2 (potassium channel) | BFNS | * |
| 8q24 | KCNQ3 | Kv7.3 (potassium channel) | BFNS | * |
| 9q34.3 | KCNT1 | Potassium channel, subfamily T, member 1 | ADNFLE | |
| 10q24 | LGI1 | LRR protein | ADLTE | * |
| 19q13.1 | SCN1B | β1 subunit (sodium channel) | GEFS+ | * |
| 2q23-q24.3 | SCN2A | Nav1.2 (sodium channel) | BFNIS | * |
| 1p35-p31.1 | SLC2A1 | GLUT1 | IGE | * |
| 9q34.1 | STXBP1 | Syntaxin-binding protein 1 | EIEE | * |
Note:
Recommended for genetic testing in epilepsy by ILAE.
Abbreviations: ILAE, International League Against Epilepsy; RE, rolandic epilepsy; AE, absence epilepsy; ADNFLE, autosomal dominant nocturnal frontal lobe epilepsy; JME, juvenile myoclonic epilepsy; GABAR, GABAA receptor; GEFS+, genetic epilepsy with febrile seizures plus; CEA, childhood absence epilepsy; NMDA, N-methyl-d-aspartate; FE, focal epilepsy; GE, generalized epilepsy; JAE, juvenile absence epilepsy; IGE, idiopathic generalized epilepsy; BFNS, benign familial neonatal idiopathic generalized epilepsy; LRR, leucine-rich repeat; ADLTE, autosomal dominant lateral temporal epilepsy; GLUT1, glucose transporter type 1; EIEE, early infantile epileptic encephalopathy with suppression-burst.