Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
Copyright policy )Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
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.
- University of Bonn Germany
- University of Duisburg-Essen Germany
- Heidelberg University Germany
- Institut für Humangenetik Germany
Male, Brain Diseases, Epilepsy, DNA Mutational Analysis, Infant, Newborn, Infant, Electroencephalography, Pyridoxaminephosphate Oxidase, Consanguinity, Fatal Outcome, Phenotype, Child, Preschool, Pyridoxal Phosphate, Mutation, Humans, Female
Male, Brain Diseases, Epilepsy, DNA Mutational Analysis, Infant, Newborn, Infant, Electroencephalography, Pyridoxaminephosphate Oxidase, Consanguinity, Fatal Outcome, Phenotype, Child, Preschool, Pyridoxal Phosphate, Mutation, Humans, Female
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