Abstract
Background: To test for vitamin B6 responsive epilepsies standardized vitamin trials and the use of biomarkers are helpful to guide genetic workup. So far resistance to pyridoxine but response to pyridoxal 5′-phosphate (PLP) was thought to distinguish between mutations of the antiquitin (ALDH7A1) or PNPO gene. We report on six individuals out of five families with partial or complete response to pyridoxine and proven mutations in the PNPO gene. In two families, one sibling had died previously due to neonatal seizures of unclear etiology.
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