Pyridoxine-dependent epilepsy

Peter Clayton, Emma Footitt and Curtis Coughlin j…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Pyridoxine-dependent epilepsy" was published on January 8, 2021 and runs 23 minutes.

January 8, 2021 ·23m · JIMD Podcasts

Summary

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 Curtis R. Coughlin et al. https://doi.org/10.1002/jimd.12332

Episode Description