Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study

Pyridoxine-dependent epilepsy must be distinguished from hypoxic-ischemic encephalopathy and other thermally sensitive epilepsies. The severity of the condition and neurodevelopmental outcomes in affected children vary significantly. Early administration of low-dose pyridoxine can effectively control seizures and reverse EEG abnormalities, potentially improving long-term neurodevelopmental outcomes. c.1061A>G and c.1547A>G may be hotspot variants in Chinese children with PDE.