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Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Gallagher RC, et al. Among authors: jakobs c. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Rosenberg EH, et al. Among authors: jakobs c. Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19501531
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: jakobs c. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Among authors: jakobs c. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
577 results