Similar articles for PMID: 24658933

Year	Number of Results
2002	1
2004	1
2005	2
2006	2
2007	8
2008	7
2009	4
2010	10
2011	5
2012	6
2013	13
2014	13
2015	7
2016	5
2017	14
2018	2
2019	10
2020	11
2021	8
2022	12
2023	6
2024	0

1

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. Plecko B, et al. Neurology. 2014 Apr 22;82(16):1425-33. doi: 10.1212/WNL.0000000000000344. Epub 2014 Mar 21. Neurology. 2014. PMID: 24658933 Free PMC article.

2

Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation.

Lugli L, Bariola MC, Ori L, Lucaccioni L, Berardi A, Ferrari F. Lugli L, et al. J Child Neurol. 2019 Dec;34(14):937-943. doi: 10.1177/0883073819863992. Epub 2019 Aug 9. J Child Neurol. 2019. PMID: 31397616

3

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. Veeravigrom M, et al. Genet Mol Res. 2015 Oct 30;14(4):14130-5. doi: 10.4238/2015.October.29.34. Genet Mol Res. 2015. PMID: 26535729 Free article.

4

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. Schmitt B, et al. Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29. Dev Med Child Neurol. 2010. PMID: 20370816 Free article.

5

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Ware TL, Pitt J, Freeman J. Ware TL, et al. Neurology. 2015 Jan 20;84(3):329. doi: 10.1212/WNL.0000000000001147. Neurology. 2015. PMID: 25601883 No abstract available.

6

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Mol Genet Metab. 2017. PMID: 28818555

7

Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.

Xue J, Chang X, Zhang Y, Yang Z. Xue J, et al. Metab Brain Dis. 2017 Aug;32(4):1081-1087. doi: 10.1007/s11011-017-9995-2. Epub 2017 Mar 27. Metab Brain Dis. 2017. PMID: 28349276

8

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

Pearl PL, Gospe SM Jr. Pearl PL, et al. Neurology. 2014 Apr 22;82(16):1392-4. doi: 10.1212/WNL.0000000000000351. Epub 2014 Mar 21. Neurology. 2014. PMID: 24658927 No abstract available.

9

[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].

Garcia-Ezquiaga J, Carrasco-Marina ML, Gutierrez-Cruz N, Iglesias-Escalera G, Castro-Reguera M, Perez-Gonzalez B. Garcia-Ezquiaga J, et al. Rev Neurol. 2019 Oct 1;69(7):303-304. doi: 10.33588/rn.6907.2019084. Rev Neurol. 2019. PMID: 31559630 Free article. Spanish.

10

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. Mills PB, et al. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.

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