Table 1. Features of pyridoxine responsive seizures.
| PDRs 35 children | ||||
|---|---|---|---|---|
| Features | ALDH7A1 4 children group A | PLPBP (PROSC), now PLPHP (4) + 8 = 12 group B | Non-A, non-B 12 children group C | PR-7 children group D |
| Abbreviations: AASA, alpha aminoadipic semialdehyde; CT, computerized tomography; EEG, electroencephalogram; MRI, magnetic resonance imaging; PDRs, pyridoxine responsive seizures; PLPBP, pyridoxal-phosphate binding protein; PN, pyridoxine; PROSC, proline synthetase cotranscribed; PR, pyridoxine responsive; PVL, periventricular leukomalacia; SE, status epilepticus; +, positive. | ||||
| Onset of seizures | 30 min-1 d | 1 h–10 d in utero-2 | 4 h–2 y, 5 mo (5.2 mo) | 7 d–7 mo |
| Type of seizures | ||||
| Tonic clonic | 2 | 3 | 4 | 1 |
| Tonic clonic + myoclonic | 0 | 1 | 2 | 4 |
| Tonic clonic + focal | 0 | 0 | 4 | 0 |
| Tonic–clonic SE | 2 | 0 | 0 | 0 |
| Infantile spasms | 0 | 0 | 2 | 2 |
| Development | ||||
| Normal | 1 | 10 | 12 | 0 |
| Delayed | 3 | 2 | 0 | 7 |
| Family history | + | + | + | + |
| Pipecolic acid and AASA | ||||
| Elevated | 3 | |||
| Normal | 1 | 4 | 12 | 7 |
| EEG | ||||
| Epileptic encephalopathy | 1 | 2 | 5 | 5 |
| Spikes | 0 | 0 | 2 | 2 |
| Slowing | 1 | 0 | 0 | 0 |
| Normal | 2 | 2 | 5 | 0 |
| MRI | ||||
| Normal | 1 | 2 | 5 (CT-1) | 1 |
| Leukopathy | 0 | 1 | 0 | 3 |
| PVL | 0 | 0 | 0 | 1 |
| Not done | 3 | 1 | 4 | 2 |
| No record | 1 | |||
| PN mg/kg | 10 | 5.7 | 6.2 | 7.7 |
| Control | All | All except 2 | All | Poor all |