Pyridoxine-dependent epilepsy [Supplementary Concept]
A hereditary combination of various seizure types that occur in neonates and are unresponsive to standard ANTICONVULSANT AGENTS. They can be treated only by the immediate administration of PYRIDOXINE HYDROCHLORIDE. This treatment must continue or the seizures will re-appear. Some patients show developmental delay. Prevalence is 1 in 400,000 to 700,000 births. Germline mutations in the ALDH7A1 gene have been identified. OMIM: 266100
Date introduced: August 25, 2010
MeSH Unique ID: C536254
Heading Mapped to:
Entry Terms:
- Pyridoxine dependency with seizures
- Vitamin B6-Dependent Seizures
- Aasa Dehydrogenase Deficiency
- Pyridoxine-Dependent Seizures
- Pyridoxine dependency
- Epilepsy, Pyridoxine-Dependent