Pyridoxine-dependent epilepsy
From Wikipedia, the free encyclopedia
| Pyridoxine-dependent epilepsy | |
|---|---|
| Classification and external resources | |
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| OMIM | 266100 |
| eMedicine | article/985667 |
Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare disorder characterised by intractable seizures in newborn children that require lifelong B6 supplementation to treat. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954.[1] The most likely cause is a mutation in ALDH7A1 (antiquitin) gene.
References
See also
External links
- GeneReview/NCBI/NIH/UW entry on Pyridoxine-Dependent Seizures
- Pyridoxine-dependent epilepsy. Genetics Home Reference. June 17, 2013.
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