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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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2010
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Original Articles
Online toegang: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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