MeSH Browser

MeSH Supplementary: Pyridoxine-dependent epilepsy
Unique ID: C536254
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536254
Entry Term(s): Aasa Dehydrogenase Deficiency; Epilepsy, Pyridoxine-Dependent; Pyridoxine dependency; Pyridoxine dependency with seizures; Pyridoxine-Dependent Seizures; Vitamin B6-Dependent Seizures
Registry Number: 0
Heading Mapped to: *Epilepsy
Frequency: 122
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Pyridoxine-dependent epilepsy MeSH Supplementary Concept Data 2024