Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 175

1.

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.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Review.

PMID:
21704546
2.

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W.

Hum Mutat. 2007 Jan;28(1):19-26.

PMID:
17068770
3.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT.

Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar.

4.

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.

Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568.

PMID:
19142996
5.

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S.

Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10.

6.

Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.

Jagadeesh S, Suresh B, Murugan V, Suresh S, Salomans GS, Struys EA, Jacobs C.

Paediatr Int Child Health. 2013 May;33(2):113-5. doi: 10.1179/2046905512Y.0000000028.

PMID:
23925287
7.

Neonatal vitamin-responsive epileptic encephalopathies.

Gospe SM Jr.

Chang Gung Med J. 2010 Jan-Feb;33(1):1-12. Review.

8.

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C.

J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17.

9.

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.

Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, Hyland K, Struys EA, Kyriakopoulou L, Mamak E.

Eur J Paediatr Neurol. 2014 Nov;18(6):741-6. doi: 10.1016/j.ejpn.2014.07.001. Epub 2014 Jul 27.

PMID:
25127453
10.

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.

Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J.

Mol Cell Probes. 2017 Apr;32:18-23. doi: 10.1016/j.mcp.2016.11.002. Epub 2016 Nov 14.

PMID:
27856333
11.

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.

Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16.

12.

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B.

Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12.

PMID:
23147983
13.

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L.

Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610.

14.

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.

Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N.

Mol Genet Metab. 2016 Jul;118(3):167-72. doi: 10.1016/j.ymgme.2016.04.015. Epub 2016 May 8.

PMID:
27324284
15.

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.

Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18.

16.

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B.

J Inherit Metab Dis. 2016 Sep;39(5):733-41. doi: 10.1007/s10545-016-9955-8. Epub 2016 Jun 24.

PMID:
27342130
17.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT.

Nat Med. 2006 Mar;12(3):307-9. Epub 2006 Feb 19.

PMID:
16491085
18.

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C.

Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25.

19.

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S.

Can J Neurol Sci. 2012 Jul;39(4):516-9.

PMID:
22728861
20.

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.

Mercimek-Mahmutoglu S, Corderio D, Nagy L, Mutch C, Carter M, Struys E, Kyriakopoulou L.

Mol Genet Metab Rep. 2014 Apr 1;1:124-128. eCollection 2014.

Supplemental Content

Support Center