Pyridoxine-dependent epilepsy - JIMD Podcasts

What this episode covers

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

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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.

What is this episode about?

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...

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