Table 2.
Main genes that have recently been associated with early-onset epileptic encephalopathies (EEs) through whole exome studies
| Gene | Chromosome | Phenotype | Patients (n) | Reference |
|---|---|---|---|---|
| GABRB3 | 15q11 | IS and LGS | 4 | [114] |
| ALG1 | 16p13 | IS and LGS | 2 | [114] |
| CACNA1A | 19p13 | IS and LGS | 1 | [114] |
| CHD2 | 15q26 | IS, LGS, DS-like | 10 | [115, 116] |
| GABRA1 | 5q34 | IS and LGS | 1 | [114] |
| GRIN1 | 9q34 | IS and LGS | 1 | [114] |
| IQSEC2 | Xp11 | IS and LGS | 1 | [114] |
| NEDD4L | 18q21 | IS and LGS | 1 | [14] |
| SCN8A | 12q13 | IS, LGS and undefined EE | 2 | [117, 112] |
| DNM1 | 9q34 | IS and LGS | 2 | [114] |
| HDAC4 | 2q37 | IS and LGS | 2 | [114] |
| SYNGAP1 | 6p21.3 | IS, LGS and undefined EE | 5 | [15] |
| CACNA2D2 | 3p21 | EE | 6 | [174] |
| KCNT1 | 9q34 | MMPSI | 6 | [118] |
| GRIN2B | 12p.12 | WS, focal epilepsy with ID | 3 | [113] |
DS Dravet syndrome; ID intellectual disability; IS infantile spasms; LGS Lennox–Gastaut syndrome; MMPSI malignant partial seizures of infancy; WS West syndrome