EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.4.3.5 | Brain Diseases |
15772097 |
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. |
causal interaction therapeutic application unassigned |
3 4 0 |
1.4.3.5 | Brain Diseases |
16538088 |
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. |
causal interaction unassigned |
3 0 |
1.4.3.5 | Brain Diseases |
19759001 |
Molecular basis of reduced Pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. |
causal interaction unassigned |
4 0 |
1.4.3.5 | Brain Diseases |
26303608 |
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review. |
causal interaction unassigned |
4 0 |
1.4.3.5 | Brain Diseases |
27342130 |
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. |
causal interaction diagnostic usage unassigned |
3 3 0 |
1.4.3.5 | Brain Diseases |
32788630 |
Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. |
causal interaction diagnostic usage unassigned |
4 1 0 |
1.4.3.5 | Epilepsy |
20370816 |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. |
causal interaction diagnostic usage unassigned |
3 2 0 |
1.4.3.5 | Epilepsy |
20412262 |
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. |
causal interaction unassigned |
4 0 |
1.4.3.5 | Epilepsy |
21292558 |
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. |
causal interaction therapeutic application unassigned |
1 1 0 |
1.4.3.5 | Epilepsy |
31397616 |
Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation. |
causal interaction therapeutic application unassigned |
4 1 0 |