Pyridoxine-dependent epilepsy

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

Also Known As:

Aasa Dehydrogenase Deficiency; Epilepsy, Pyridoxine-Dependent; Pyridoxine dependency; Pyridoxine dependency with seizures; Pyridoxine-Dependent Seizures; Vitamin B6-Dependent Seizures

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Epilepsy: 38749
      - Pyridoxine-dependent epilepsy: 185

L A Tseng Selected Research

L A Tseng Research Topics

Disease

Drug/Important Bio-Agent (IBA)