Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 1 to 20 of 74

1.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

2.

Pyridoxine-dependent epilepsy: report on three families with neuropathology.

Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S.

Metab Brain Dis. 2016 Dec;31(6):1435-1443. Epub 2016 Jul 20.

PMID:
27438048
3.

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.

Mahajnah M, Corderio D, Austin V, Herd S, Mutch C, Carter M, Struys E, Mercimek-Mahmutoglu S.

Pediatr Neurol. 2016 Jul;60:60-5. doi: 10.1016/j.pediatrneurol.2016.03.008. Epub 2016 Apr 13.

PMID:
27212567
4.

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S.

Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Review.

PMID:
26995068
5.

Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy.

Poliachik SL, Friedman SD, Poliakov AV, Budech CB, Ishak GE, Shaw DW, Gospe SM Jr.

Pediatr Neurol. 2016 Jan;54:43-8. doi: 10.1016/j.pediatrneurol.2015.09.012. Epub 2015 Sep 25.

PMID:
26547255
6.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT.

JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8.

7.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr.

Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29.

8.

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.

Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. doi: 10.1016/j.ymgme.2015.05.011. Epub 2015 May 23. Review.

PMID:
26026794
9.

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.

Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, Hyland K, Struys EA, Kyriakopoulou L, Mamak E.

Eur J Paediatr Neurol. 2014 Nov;18(6):741-6. doi: 10.1016/j.ejpn.2014.07.001. Epub 2014 Jul 27.

PMID:
25127453
10.

Callosal alterations in pyridoxine-dependent epilepsy.

Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM Jr.

Dev Med Child Neurol. 2014 Nov;56(11):1106-10. doi: 10.1111/dmcn.12511. Epub 2014 Jun 18.

11.

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H.

JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296. Epub 2014 Apr 19.

12.

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.

13.

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.

14.

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Tiebout S, van Karnebeek C, Stockler S.

Mol Genet Metab. 2014 Apr;111(4):462-6. doi: 10.1016/j.ymgme.2014.02.010. Epub 2014 Feb 24.

PMID:
24613284
15.

Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.

Jansen LA, Hevner RF, Roden WH, Hahn SH, Jung S, Gospe SM Jr.

Ann Neurol. 2014 Jan;75(1):22-32. doi: 10.1002/ana.24027. Epub 2014 Jan 2.

16.

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.

Jung S, Tran NT, Gospe SM Jr, Hahn SH.

Mol Genet Metab. 2013 Nov;110(3):237-40. doi: 10.1016/j.ymgme.2013.07.017. Epub 2013 Jul 26.

PMID:
23953072
17.

Partial Pyridoxine Responsiveness in PNPO Deficiency.

Pearl PL, Hyland K, Chiles J, McGavin CL, Yu Y, Taylor D.

JIMD Rep. 2013;9:139-142. doi: 10.1007/8904_2012_194. Epub 2012 Nov 7.

18.

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
19.

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.

20.

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.

Mefford HC, Cook J, Gospe SM Jr.

Am J Med Genet A. 2012 Dec;158A(12):3190-5. doi: 10.1002/ajmg.a.35633. Epub 2012 Nov 19.

PMID:
23166088

Supplemental Content

Support Center