Pyridoxine-dependent epilepsy

Jan 8, 2021·
Curtis Coughlin II
Curtis Coughlin II
· 1 min read
Abstract
Drs Coughlin, Footitt and Clayton dicuss the history of PDE-ALDH7A1 and the new consensus guidelines for diagnosis and managment.
Date
Jan 8, 2021
Event
the JIMD Podcast
Location

Recorded

Podcast Overview

Peter Clayton, Emma Footitt and Curtis Coughlin join us to discuss the new consensus guidelines for PDE-ALDH7A1 disease. Professor Clayton explains the pathophysiology and history of the condition. Dr Footitt and Dr Clayton discuss the metabolic investigations of early onset seizures as well as the proposed management of pyridoxine-dependent epilepsy. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Podcast PDE-ALDH7A1
Curtis Coughlin II
Authors
Curtis Coughlin II
Associate Professor
Translational researcher focused on rare diseases and bioethics