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1. [Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].

Author

Garcia-Ezquiaga J, Carrasco-Marina ML, Gutierrez-Cruz N, Iglesias-Escalera G, Castro-Reguera M, and Perez-Gonzalez B

Subjects
Adolescent, Epilepsy cerebrospinal fluid, Epilepsy drug therapy, Female, Humans, Polymorphism, Single Nucleotide, Pyridoxaminephosphate Oxidase genetics, Pyridoxine therapeutic use, Tetrahydrofolates cerebrospinal fluid, Brain Diseases, Metabolic genetics, Chromosomes, Human, Pair 17 genetics, Epilepsy genetics, Hypoxia-Ischemia, Brain genetics, Mutation, Missense, Pyridoxaminephosphate Oxidase deficiency, Seizures genetics, Uniparental Disomy
Published
2019
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