Pyridoxal Phosphate-responsive Seizures
| Disease Aliases (15) | Epileptic encephalopathy, neonatal, pnpo-related Pnpo deficiency Pnpo-related neonatal epileptic encephalopathy Pnpod Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxal 5-phosphate dependent epilepsy Pyridoxal phosphate-dependent seizures Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxamine 5-prime-phosphate oxidase deficiency Pyridoxine-5'-phosphate oxidase deficiency Seizures, pyridoxine-resistant, plp-sensitive Pyridoxal phosphate-responsive seizures Pyridoxamine 5-prime-phosphate oxidase deficiency; pnpod Pyridoxine 5' phosphate oxidase deficiency |
Associated Genes (1) NCBI-RefSeq: PNPO (Pyridoxamine 5'-phosphate oxidase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Pyridoxal phosphate-responsive seizures | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |