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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain.</p><p>When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition.</p><p>Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pyridoxine-dependent epilepsy?"},{"bodyHtml":"<p>Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pyridoxine-dependent-epilepsy","sourceDocuments":[{"name":"Pyridoxine-dependent epilepsy","reviewed":"2008-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:36.437034+00:00","label":"Causes","pageSha256":"ae17614014bfe2b08cdd6e3d788e0704cad960c14f0d39dae5398b295d4d3eb7","sourceUrl":"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Pyridoxine-dependent epilepsy"},"schemaVersion":1}