Article
Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.
Epilepsia - 1 Jan 2020
Osman Chinar, Foulds Nicola, Hunt David, Jade Edwards Casidhe, Prevett Martin
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs). Treatment with pyridoxine terminates seizures and prevents neurological decline. We describe a case in which the diagnosis was established at the age of 22 years. Birth and development were normal, but...
Topics
- Adolescent
- Age of Onset
- Aldehyde Dehydrogenase
- Epilepsy
- Female
- Humans
- Mutation
- Pyridoxine
- Status Epilepticus
- Young Adult