| Pyridoxine-dependent epilepsy | |
|---|---|
| Other names | Pyridoxine-dependent seizure (PDS), vitamin B6 responsive epilepsy |
 | |
| Pyridoxine | |
| Specialty | Neurology |
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.[1][2][3] More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE.[1][2][3][4]
- ^ a b Gospe, SM (Dec 7, 2001). "Pyridoxine-Dependent Epilepsy". GeneReviews. PMID 20301659. Retrieved June 19, 2014.
- ^ a b Stockler, S; Plecko, B; Gospe, SM; Coulter-Mackie, M; et, al. (September 2011). "Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up". Molecular Genetics and Metabolism. 104 (1–2): 48–60. doi:10.1016/j.ymgme.2011.05.014. PMID 21704546.
- ^ a b Shih, JJ; Kornblum, H; Shewmon, DA (September 1996). "Global brain dysfunction in an infant with pyridoxine dependency: evaluation with EEG, evoked potentials, MRI, and PET". Neurology. 47 (3): 824–6. doi:10.1212/WNL.47.3.824. PMID 8797489.
- ^ Pearl, PL; Gospe, SM (22 April 2014). "Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier". Neurology. 82 (16): 1392–4. doi:10.1212/WNL.0000000000000351. PMID 24658927.