Early-onset vitamin B6-Dependent Epilepsy-4

Preferred Label : Early-onset vitamin B6-Dependent Epilepsy-4;

NCIt synonyms : EPEO4; PDE; Pyridoxine-Dependent Epilepsy;

NCIt related terms : Early-Onset Vitamin B6-Dependent Epilespy-4;

NCIt 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).;

Details

Origin ID

C210888;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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