Pyridoxine-dependent epilepsy
Jan 08, 2021•24 min
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Episode description
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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