Table 3.
Recurrent de novo mutations of SCN8A in epileptic encephalopathy.
| Amino acid substitution | Nucleotide substitution | Exon | Channel domain | CpG | # | Reference |
|---|---|---|---|---|---|---|
| p.Asn215Asp | c.643 A > G | 6A | DIS3 | No | 2 | DECIPHER 2015 (25) |
| p.Ala890Thr | c.2668 G > A | 16 | DIIS5 | No | 2 | (25, 53) |
| p.Ile1327Val | c.3979 A > G | 22 | DIIIS4-5 | No | 2 | (19, 27) |
| p.Arg1617Gln | c.4850 G > A | 27 | DIVS4 | Yes | 5 | (16, 21, 23, 25, 53) |
| p.Ala1650Thr | c.4948 G > A | 27 | DIVS4-5 | No | 2 | (23, 25) |
| p.Arg1872Trp | c.5614 C > T | 27 | C-term | Yes | 9 | (17, 23, 25), unpublished obs. |
| p.Arg1872Gln | c.5615G > A | |||||
| p.Arg1872Leu | c.5615 G > T |