Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ(1)-piperideine 6-carboxylate. However, whilst this is a...

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Bibliographic Details
Main Authors: Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2010
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2892945/
https://ncbi.nlm.nih.gov/pubmed/20554659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq143
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