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Items: 1 to 20 of 189

1.

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
2.

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.

3.

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
4.

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
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.

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.

7.

[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
8.

Novel mutations in pyridoxine-dependent epilepsy.

Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S.

Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28.

PMID:
20427214
9.

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
10.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G.

Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29.

11.

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.

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

Mol Biol Rep. 2013 Jan;40(1):487-90. doi: 10.1007/s11033-012-2084-z. Epub 2012 Oct 10.

PMID:
23054014
12.

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.

13.

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y.

Mol Genet Metab. 2007 Aug;91(4):384-9. Epub 2007 Apr 11.

PMID:
17433748
14.

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
15.

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.

Striano P, Battaglia S, Giordano L, Capovilla G, Beccaria F, Struys EA, Salomons GS, Jakobs C.

Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x.

16.

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.

17.

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
18.

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.

19.

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.

Yeghiazaryan NS, Striano P, Spaccini L, Pezzella M, Cassandrini D, Zara F, Mastrangelo M.

Eur J Paediatr Neurol. 2011 Nov;15(6):547-50. doi: 10.1016/j.ejpn.2011.05.011. Epub 2011 Jul 5.

PMID:
21733724
20.

Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures.

Yeghiazaryan NS, Zara F, Capovilla G, Brigati G, Falsaperla R, Striano P.

J Paediatr Child Health. 2012 Mar;48(3):E113-5. doi: 10.1111/j.1440-1754.2010.01866.x. Epub 2010 Oct 6.

PMID:
21496129

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