Early-Onset Vitamin B6-Dependent Epilepsy-4

**Semantic type:** Disease or Syndrome

**Definition:** 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).

**Synonyms:** - EPEO4 - PDE - Pyridoxine-Dependent Epilepsy