Table 1.
Description of the polymorphisms of the SCN1A gene in this study
| Base pair change | Aminoacid | Position | Frequency of heterozygous reported in literature | Clinical association | Reference |
|---|---|---|---|---|---|
| c.1748A > T | p.D583 V | Exon 11 | ND | NK | NCBI |
| c.2656T > C | p.S886P | Exon 15 | ND | NK | NCBI |
| c.3199A > G | p.T1067A | Exon 16 | 0.33 | The SNP is more frequent in patients with epilepsy than in controls (33) | [24, 25, 27–33] |
| c.5771G > A | p.R1924H | Exon 26 | ND | NK | NCBI |
| c.5864T > C | p.I1955T | Exon 26 | 0.025 | NK | [41] |
ND not determined, NK not known