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

doi:10.1093/brain/awq143

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Article

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

Brain : a journal of neurology - 1 Jul 2010

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

Abstract excerpt

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-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnosis and how to test...

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PMID: 20554659
DOI: 10.1093/brain/awq143
PMCID: PMC2892945

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