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Items: 1 to 20 of 195

1.

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.

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-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.

4.

Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B.

Neuropediatrics. 2008 Oct;39(5):276-9. doi: 10.1055/s-0029-1202833. Epub 2009 Mar 17.

PMID:
19294602
5.

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
6.

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

Ville D, Ginguene C, Marignier S, des Portes V, de Bellescize J.

Eur J Paediatr Neurol. 2013 Nov;17(6):676-80. doi: 10.1016/j.ejpn.2013.06.005. Epub 2013 Jul 31.

PMID:
23916709
7.

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.

8.

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C.

Ann Neurol. 2007 Oct;62(4):414-8.

PMID:
17721876
9.

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
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Plecko B, Paul K, Mills P, Clayton P, Paschke E, Maier O, Hasselmann O, Schmiedel G, Kanz S, Connolly M, Wolf N, Struys E, Stockler S, Abela L, Hofer D.

Neurology. 2014 Apr 22;82(16):1425-33. doi: 10.1212/WNL.0000000000000344. Epub 2014 Mar 21.

16.

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.

17.

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

Tso WW, Kwong AK, Fung CW, Wong VC.

Pediatr Neurol. 2014 Feb;50(2):177-80. doi: 10.1016/j.pediatrneurol.2013.10.006. Epub 2013 Oct 24.

PMID:
24315539
18.

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.

19.

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
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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