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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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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Original Articles
Acesso em linha: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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