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Items: 1 to 20 of 126

1.

Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.

Mercimek-Mahmutoglu S, Donner EJ, Siriwardena K.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):197. doi: 10.1016/j.ymgme.2013.04.018. Epub 2013 Apr 30. No abstract available.

PMID:
23683770
2.

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.

3.

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
4.

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.

5.

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
6.

A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.

Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Apr 1;1017-1018:145-152. doi: 10.1016/j.jchromb.2016.02.043. Epub 2016 Mar 3.

PMID:
26970849
7.

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
8.

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
9.

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

Sadilkova K, Gospe SM Jr, Hahn SH.

J Neurosci Methods. 2009 Oct 30;184(1):136-41. doi: 10.1016/j.jneumeth.2009.07.019. Epub 2009 Jul 23.

PMID:
19631689
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.

[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].

Xue J, Yang ZX, Li H, Qian P, Wu Y, Jiang YW, Liu XY.

Zhonghua Er Ke Za Zhi. 2016 Aug;54(8):592-6. doi: 10.3760/cma.j.issn.0578-1310.2016.08.007. Chinese.

PMID:
27510871
12.

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.

13.

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.

Mahajnah M, Corderio D, Austin V, Herd S, Mutch C, Carter M, Struys E, Mercimek-Mahmutoglu S.

Pediatr Neurol. 2016 Jul;60:60-5. doi: 10.1016/j.pediatrneurol.2016.03.008. Epub 2016 Apr 13.

PMID:
27212567
14.

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C.

Ann Neurol. 2000 Jul;48(1):121-5.

PMID:
10894227
15.

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
16.

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.

Bok LA, Maurits NM, Willemsen MA, Jakobs C, Teune LK, Poll-The BT, de Coo IF, Toet MC, Hagebeuk EE, Brouwer OF, van der Hoeven JH, Sival DA.

Epilepsia. 2010 Dec;51(12):2406-11. doi: 10.1111/j.1528-1167.2010.02747.x. Epub 2010 Sep 30.

17.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.

PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

18.

Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.

Tlili A, Hamida Hentati N, Chaabane R, Gargouri A, Fakhfakh F.

Gene. 2013 Apr 15;518(2):242-5. doi: 10.1016/j.gene.2013.01.041. Epub 2013 Jan 30.

PMID:
23376216
19.

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB.

Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23.

PMID:
22529283
20.

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

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