Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE.
| Pyridoxine-dependent epilepsy | |
|---|---|
| Other names | Pyridoxine-dependent seizure (PDS), vitamin B6 responsive epilepsy |
| Pyridoxine | |
| Specialty | Neurology |
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