| PDE | Pyridoxine-dependent epilepsy |
| PN | Pyridoxine |
| AED | Resistant to antiepileptic drugs |
| LD | Optical genome mapping |
| PE-WGS | Paired-end whole-genome sequencing |
| ID | Intellectual disability |
| SV | Structural variant |
| PDE | Pyridoxine-dependent epilepsy |
| PN | Pyridoxine |
| AED | Resistant to antiepileptic drugs |
| LD | Optical genome mapping |
| PE-WGS | Paired-end whole-genome sequencing |
| ID | Intellectual disability |
| SV | Structural variant |