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Results: 1 to 20 of 160

Similar articles for PubMed (Select 22804844)

1.

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.

PMID:
22804844
2.

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.

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.

4.

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.

5.

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.

6.

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.

PMID:
24184718
7.

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
8.

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
9.

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.

PMID:
20887371
10.

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
11.

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.

PMID:
20370816
12.

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
13.

Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.

Rankin PM, Harrison S, Chong WK, Boyd S, Aylett SE.

Dev Med Child Neurol. 2007 Apr;49(4):300-5.

PMID:
17376142
14.

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.

Nabbout R, Soufflet C, Plouin P, Dulac O.

Arch Dis Child Fetal Neonatal Ed. 1999 Sep;81(2):F125-9.

16.

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.

PMID:
23350806
17.

Long-term clinical outcome of neonatal EEG findings.

Almubarak S, Wong PK.

J Clin Neurophysiol. 2011 Apr;28(2):185-9. doi: 10.1097/WNP.0b013e3182121731.

PMID:
21399525
18.

Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up.

Mikati MA, Trevathan E, Krishnamoorthy KS, Lombroso CT.

Electroencephalogr Clin Neurophysiol. 1991 Mar;78(3):215-21.

PMID:
1707793
19.

[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
20.

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Bok LA, Been JV, Struys EA, Jakobs C, Rijper EA, Willemsen MA.

Eur J Pediatr. 2010 Mar;169(3):297-303. doi: 10.1007/s00431-009-1020-2. Epub 2009 Jul 9.

PMID:
19588165
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