RT Journal Article SR Electronic T1 Pyridoxal phosphate-dependent neonatal epileptic encephalopathy JF Archives of Disease in Childhood - Fetal and Neonatal Edition JO Arch Dis Child Fetal Neonatal Ed FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health SP F151 OP F152 DO 10.1136/adc.2006.115162 VO 93 IS 2 A1 Bagci, S A1 Zschocke, J A1 Hoffmann, G F A1 Bast, T A1 Klepper, J A1 Müller, A A1 Heep, A A1 Bartmann, P A1 Franz, A R YR 2008 UL http://fn.bmj.com/content/93/2/F151.abstract AB Pyridox(am)ine-5′-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5′-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.