Table 4.
Summary of NMDAR subunit mutations in epilepsy
Gene | Number | Functional validation | |||
---|---|---|---|---|---|
Gain-of-function | Loss-of-function | No change | Sum | ||
GRIN1 | 12 | 0 | 6 | 2 | 8 |
GRIN2A | 82 | 9 | 19 | 4 | 32 |
GRIN2B | 13 | 3 | 2 | 0 | 5 |
GRIN2D | 1 | 1 | 0 | 0 | 1 |
Sum | 108 | 13 | 27 | 6 | 46 |