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[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].
- Source :
-
Revista de neurologia [Rev Neurol] 2019 Oct 01; Vol. 69 (7), pp. 303-304. - Publication Year :
- 2019
- 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
Subjects
Details
- Language :
- Spanish; Castilian
- ISSN :
- 1576-6578
- Volume :
- 69
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Revista de neurologia
- Publication Type :
- Report
- Accession number :
- 31559630
- Full Text :
- https://doi.org/10.33588/rn.6907.2019084