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Pyridoxine-dependent epilepsy

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Pyridoxine-dependent epilepsy
Classification and external resources
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. The most likely cause is a mutation in ALDH7A1 (antiquitin) gene.

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