Table 1.
Disease genes identified in generalized myoclonic epilepsy, febrile seizures, absences (37 genes).
| Gene Symbol | Gene name and description |
|---|---|
| ALDH7A1 | Aldehyde dehydrogenase 7 family, member A1 |
| BRD2 | Bromodomain containing 2 |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| CACNA1H | Calcium channel, voltage-dependent, T type, alpha 1H subunit |
| CACNB4 | Calcium channel, voltage-dependent, beta 4 subunit |
| CASR | Calcium-sensing receptor |
| CHRNA2 | Cholinergic receptor, nicotinic, alpha 2 (neuronal) |
| CHRNA4 | Cholinergic receptor, nicotinic, alpha 4 |
| CHRNB2 | Cholinergic receptor, nicotinic, beta 2 (neuronal) |
| CLCN2 | Chloride channel 2 |
| CSTB | Cystatin B (stefin B) |
| EFHC1 | EF-hand domain (C-terminal) containing 1 |
| EPM2A | Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
| GABRA1 | Gamma-aminobutyric acid (GABA) A receptor, alpha 1 |
| GABRB3 | Gamma-aminobutyric acid (GABA) A receptor, beta 3 |
| GABRD | Gamma-aminobutyric acid (GABA) A receptor, delta |
| GABRG2 | Gamma-aminobutyric acid (GABA) A receptor, gamma 2 |
| GPR98 | G protein-coupled receptor 98 |
| GRIN2A | Glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
| GRIN2B | Glutamate receptor, ionotropic, N-methyl D-aspartate 2B |
| KCNMA1 | Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
| KCNQ2 | Potassium voltage-gated channel, KQT-like subfamily, member 2 |
| KCNQ3 | Potassium voltage-gated channel, KQT-like subfamily, member 3 |
| KCTD7 | Potassium channel tetramerisation domain containing 7 |
| MBD5 | Methyl-CpG-binding domain protein 5 |
| ME2 | Malic enzyme 2, NAD(+)-dependent, mitochondrial |
| NHLRC1 | NHL repeat containing 1 |
| PCDH19 | Protocadherin 19 |
| PRICKLE1 | Prickle homolog 1 (Drosophila) |
| PRICKLE2 | Prickle homolog 2 (Drosophila) |
| SCARB2 | Scavenger receptor class B, member 2 |
| SCN1A | Sodium channel, voltage-gated, type I, alpha subunit |
| SCN1B | Sodium channel, voltage-gated, type I, beta subunit |
| SCN2A | Sodium channel, voltage-gated, type II, alpha subunit |
| SCN9A | Sodium channel, voltage-gated, type IX, alpha subunit |
| SLC2A1 | Solute carrier family 2 (facilitated glucose transporter), member 1 |
| TBC1D24 | TBC1 domain family, member 24 |