Pyridoxine-dependent epilepsy

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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 metadata supplied by the publisher feed · Published Jan 8, 2021

Embed this episode

Attribution link and audio player

NOW PLAYING

Pyridoxine-dependent epilepsy

0:00 23:45

1×

No transcript for this episode yet

We transcribe on demand. Request one and we'll notify you when it's ready — usually under 10 minutes.

Share this episode

Similar Episodes

No similar episodes found.

Similar Podcasts

No similar podcasts found.

Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 23 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on January 8, 2021.

Can I download this JIMD Podcasts episode?

Yes. Use the download control on the episode player to save the publisher-provided media file.

URL copied to clipboard!