Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria
BMC Neurol. 2024 Nov 5;24(1):430. doi: 10.1186/s12883-024-03936-1. ABSTRACT BACKGROUND: Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic …