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Items: 1 to 20 of 175

1.

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL.

J Inherit Metab Dis. 2010 Oct;33(5):571-81. doi: 10.1007/s10545-010-9187-2. Epub 2010 Sep 3.

2.

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.

3.

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.

4.

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.

Gül-Mert G, İncecik F, Hergüner MÖ, Ceylaner S, Altunbaşak Ş.

Turk J Pediatr. 2015 Jul-Aug;57(4):394-397. Review.

PMID:
27186704
5.

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
6.

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
7.

A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.

Xue J, Qian P, Li H, Wu Y, Liu X, Yang Z.

Epilepsy Res. 2015 Dec;118:1-4. doi: 10.1016/j.eplepsyres.2015.10.002. Epub 2015 Oct 19.

PMID:
26555630
8.

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
9.

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.

10.

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Tincheva S, Todorov T, Todorova A, Georgieva R, Stamatov D, Yordanova I, Kadiyska T, Georgieva B, Bojidarova M, Tacheva G, Litvinenko I, Mitev V.

Neurol Sci. 2015 Dec;36(12):2209-12. doi: 10.1007/s10072-015-2338-3. Epub 2015 Aug 1.

PMID:
26232297
11.

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.

Tamaura M, Shimbo H, Iai M, Yamashita S, Osaka H.

Brain Dev. 2015 Apr;37(4):442-5. doi: 10.1016/j.braindev.2014.07.008. Epub 2014 Aug 7.

PMID:
25123644
12.

Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

Nam SH, Kwon MJ, Lee J, Lee CG, Yu HJ, Ki CS, Lee M.

Ann Clin Lab Sci. 2012 Winter;42(1):65-72.

PMID:
22371912
13.

Long-term outcome in pyridoxine-dependent epilepsy.

Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, Struys E, Van Der Hoeven JH, Sival DA, Willemsen MA.

Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13.

14.

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.

Yang Z, Yang X, Wu Y, Wang J, Zhang Y, Xiong H, Jiang Y, Qin J.

PLoS One. 2014 Mar 24;9(3):e92803. doi: 10.1371/journal.pone.0092803. eCollection 2014.

15.

Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.

Nasr E, Mamak E, Feigenbaum A, Donner EJ, Mercimek-Mahmutoglu S.

J Child Neurol. 2015 Apr;30(5):648-53. doi: 10.1177/0883073814531331. Epub 2014 May 1.

PMID:
24789515
16.

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
17.

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
18.

[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].

Yang ZX, Qin J.

Zhonghua Er Ke Za Zhi. 2013 Nov;51(11):867-70. Review. Chinese. No abstract available.

PMID:
24484566
19.

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S.

Mol Genet Metab. 2014 Apr;111(4):462-6. doi: 10.1016/j.ymgme.2014.02.010. Epub 2014 Feb 24.

PMID:
24613284
20.

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.

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