Table 3.
Distribution of variants in the epilepsy genes between groups of patients, for different categories of genes
| Group of patients | Type A variants (CADDa >20/ MAFb <0.01) | Type B variants (CADD >10/MAF <0.01) | Type C variants (all CADD/MAF <0.01) | Type D variants (all CADD/MAF <0.05) | Type E variants (all CADD/MAF <0.10) | |
|---|---|---|---|---|---|---|
| % of variant alleles (based on total number of alleles per group) | Mild (n = 10) | 1.79 | 2.33 | 2.76 | 4.38 | 5.70 |
| Severe (n = 22) | 2.04 | 2.33 | 2.76 | 4.52 | 5.81 | |
| Mild + severe (n = 32) | 1.96 | 2.33 | 2.76 | 4.47 | 5.78 | |
| Intermediate (n = 18) | 1.95 | 2.06 | 2.35 | 4.03 | 5.57 | |
| p‐values Fishers' exact test | Mild versus severe | .456 | 1 | .997 | .73 | .812 |
| Mild versus intermediate | .663 | .379 | .195 | .334 | .765 | |
| Severe versus intermediate | .783 | .294 | .112 | .109 | .491 | |
| Mild + severe versus intermediate | .998 | .259 | .089 | .113 | .727 |
a
PHRED‐scaled CADD (combined annotation dependent depletion). A score of >20 represents the top 1% deleterious substitutions in the human genome.
b
Minor allele frequency; only variants with a frequency below this threshold in both the exomes and genomes in the gnomAD database are included.