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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Mills PB, et al. Among authors: footitt ej. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.
Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states.
Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ. Allen GF, et al. J Neurochem. 2010 Jul;114(1):87-96. doi: 10.1111/j.1471-4159.2010.06742.x. Epub 2010 Apr 9. J Neurochem. 2010. PMID: 20403077 Free article.
Inborn errors of metabolism causing epilepsy.
Rahman S, Footitt EJ, Varadkar S, Clayton PT. Rahman S, et al. Among authors: footitt ej. Dev Med Child Neurol. 2013 Jan;55(1):23-36. doi: 10.1111/j.1469-8749.2012.04406.x. Epub 2012 Sep 24. Dev Med Child Neurol. 2013. PMID: 22998469 Free article. Review.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: footitt ej. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.
Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT. Reid ES, et al. Among authors: footitt ej. JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8. JIMD Rep. 2016. PMID: 26446091 Free PMC article.
32 results