Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 283

1.

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.

2.

Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.

Gospe SM Jr.

Dev Med Child Neurol. 2010 Jul;52(7):602-3. doi: 10.1111/j.1469-8749.2010.03668.x. Epub 2010 Apr 12. No abstract available.

3.

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.

4.

Recent insights into pre- and postnatal pyridoxal phosphate deficiency, a treatable metabolic encephalopathy.

Baxter P.

Dev Med Child Neurol. 2010 Jul;52(7):597-8. doi: 10.1111/j.1469-8749.2010.03705.x. No abstract available.

5.

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL.

Dev Med Child Neurol. 2014 May;56(5):498-502. doi: 10.1111/dmcn.12346. Epub 2013 Nov 23.

6.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT.

Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18.

7.

Epilepsy in peroxisomal diseases.

Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, Shimozawa N, Kondo N, Nishiguchi T, Terada K, Orii T.

Epilepsia. 1997 Feb;38(2):182-8.

8.

Pyridoxine and pyridoxalphosphate-dependent epilepsies.

Plecko B.

Handb Clin Neurol. 2013;113:1811-7. doi: 10.1016/B978-0-444-59565-2.00050-2. Review.

PMID:
23622403
9.

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
10.

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.

Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V.

Genet Mol Res. 2015 Oct 30;14(4):14130-5. doi: 10.4238/2015.October.29.34.

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.

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.

13.

Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood.

Saito Y, Inui T, Sakakibara T, Sugai K, Sakuma H, Sasaki M.

Epilepsy Res. 2010 Aug;90(3):248-58. doi: 10.1016/j.eplepsyres.2010.05.013. Epub 2010 Jun 26.

PMID:
20580529
14.

Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations.

Naasan G, Yabroudi M, Rahi A, Mikati MA.

Epileptic Disord. 2009 Dec;11(4):293-300. doi: 10.1684/epd.2009.0280. Epub 2009 Dec 23.

15.

Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events.

Watemberg N, Tziperman B, Dabby R, Hasan M, Zehavi L, Lerman-Sagie T.

Epilepsia. 2005 May;46(5):716-9.

16.

Neonatal vitamin-responsive epileptic encephalopathies.

Gospe SM Jr.

Chang Gung Med J. 2010 Jan-Feb;33(1):1-12. Review.

17.

Predictive value of sequential electroencephalogram (EEG) in neonates with seizures and its relation to neurological outcome.

Khan RL, Nunes ML, Garcias da Silva LF, da Costa JC.

J Child Neurol. 2008 Feb;23(2):144-50. Epub 2007 Dec 26.

PMID:
18160554
18.

Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier.

Pearl PL, Gospe SM Jr.

Neurology. 2014 Apr 22;82(16):1392-4. doi: 10.1212/WNL.0000000000000351. Epub 2014 Mar 21. No abstract available.

PMID:
24658927
19.

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
20.

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.

Supplemental Content

Support Center