Table 2. Unique GABR variants from GECs reported in the 237 ion channel genes project1.
1GECs = genetic epilepsy cases [20]. *GABR variants characterized in this study.
| GABR gene | Variant | Occurrence of variants among GECs |
|---|---|---|
| GABRA1 | T20I* | 1 |
| GABRA4 | H372P* | 1 |
| GABRA5 | W280R* | 3 |
| GABRA5 | P453L* | 1 |
| GABRB2 | R293W* | 1 |
| GABRG3 | A303T* | 1 |
| GABRA4 | A19T* | 1 |
| GABRA5 | V204I* | 1 |
| GABRA5 | S402A* | 1 |
| GABRA6 | Q237R* | 1 |
| GABRB1 | H421Q* | 1 |
| GABRB2 | R354C* | 2 |
| GABRG1 | S16R* | 1 |
| GABRG1 | S414N* | 1 |
| GABRE | R472H | 1 |
| GABRE | S484L | 1 |
| GABRP | R200H/C | 2 |
| GABRP | S292P | 1 |
| GABRP | R293C | 1 |
| GABRP | D389N | 1 |
| GABRR2 | R287H | 1 |
| GABRR2 | V294I | 2 |
| GABRE | R452G | 1 |
| GABRP | V349A | 5 |