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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01734Q128792903
GRIN2A
Glutamate receptor ionotropic, NMDA 2A
Homo sapiens
PTMD05302P49419501
ALDH7A1
Alpha-aminoadipic semialdehyde dehydrogenase
Homo sapiens