ArticleMolecular genetics and metabolism reports2016
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons.Journal of neurodevelopmental disorders · 2026Article
- Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.Neuropediatrics · 2026Article
- Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features.International journal of molecular sciences · 2024Review
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.Children (Basel, Switzerland) · 2023Review
- B vitamin supply in plants and humans: the importance of vitamer homeostasis.The Plant journal : for cell and molecular biology · 2022Review
- Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.International journal of molecular sciences · 2021Article
- Increased hippocampal excitability in miR-324-null mice.Scientific reports · 2021Article
- Complexities of pyridoxine response in PNPO deficiency.Epilepsy & behavior reports · 2021Article
- Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.Clinical genetics · 2021Article
- Coupling of Co-expression Network Analysis and Machine Learning Validation Unearthed Potential Key Genes Involved in Rheumatoid Arthritis.Frontiers in genetics · 2021Article
- Variable treatment response in a patient with pyridoxalEpilepsy & behavior reports · 2020Article
- Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.Molecular genetics and metabolism reports · 2019Article
- Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.Human molecular genetics · 2019Article
- Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development.Frontiers in psychiatry · 2019Review
- Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.Pediatric neurology · 2017Article
- Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.Journal of pediatric neurosciencesReview
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14 months is normal.
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