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Pyridoxine dependency was one of the first genetically mediated seizure disorders to be recognized. However, the biochemical abnormality and gene locus are still unknown. Knowledge about the condition has come from case reports and small clinical series. However, new features are still being recognized both clinically, as well as more predictably, from the application of new imaging techniques. Early onset seizures responsive to pyridoxine exist which do not appear to be the same disorder. In some parts of the world, high-dose pyridoxine is used in the treatment of other major seizure disorders of young children such as West syndrome.
Peter Baxter (Tue,) studied this question.