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Browse result for Pyridoxine-dependent epilepsy
※ introduction Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE.
Reference
Wiki: Pyridoxine-dependent epilepsy
Reference
Wiki: Pyridoxine-dependent epilepsy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01734 | Q12879 | 2903 | GRIN2A | Glutamate receptor ionotropic, NMDA 2A | Homo sapiens |
| PTMD05302 | P49419 | 501 | ALDH7A1 | Alpha-aminoadipic semialdehyde dehydrogenase | Homo sapiens |
