label: Early-Onset Vitamin B6-Dependent Epilepsy-4
label_lc: early-onset vitamin b6-dependent epilepsy-4
description: An autosomal recessive condition caused by mutation(s) in the ALDH7A1 gene, encoding alpha-aminoadipic semialdehyde dehydrogenase. It is characterized by early-onset seizures that are unresponsive to standard anticonvulsant therapies, but respond to the administration of pyridoxine (hydrochloride).