Mutations identified in the CDKL5 gene
| Type of variant | Sequence change | Comments |
|---|---|---|
| Splice site | IVS6-1G→T | Pathogenic, predicted to result in exon 7 skipping (patient 2) |
| IVS11-2A→G | Pathogenic (patient 3) | |
| IVS16+1G→A | Pathogenic (patient 5) | |
| Deletion/insertion | c.2362_2366delAAGAA | Pathogenic (patient 1) |
| c.del678_691ins683_673 | Pathogenic (patient 4) | |
| Nonsense | c.175C→T (R59X) | Pathogenic (patient 6) |
| Missense | c.539C→T (P180L) | Pathogenic in conserved catalytic domain (patient 7) |
| c.2378T→C (V793A) | Uncertain pathogenicity (patient 11) | |
| Intronic | IVS 11-42_50del9bp | Uncertain pathogenicity (patient 8) |
| IVS8-19C→G | Uncertain pathogenicity (patients 9 and 10) |