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Items: 1 to 20 of 36

1.

Novel mutations in pyridoxine-dependent epilepsy.

Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S.

Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28.

PMID:
20427214
2.

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.

3.

Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.

Brocker C, Lassen N, Estey T, Pappa A, Cantore M, Orlova VV, Chavakis T, Kavanagh KL, Oppermann U, Vasiliou V.

J Biol Chem. 2010 Jun 11;285(24):18452-63. doi: 10.1074/jbc.M109.077925. Epub 2010 Mar 5.

4.

Vitamin B6 dependent seizures.

Plecko B, Stöckler S.

Can J Neurol Sci. 2009 Aug;36 Suppl 2:S73-7. Review.

PMID:
19760909
5.

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
6.

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
7.

Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus.

Kabakus N, Aydin M, Ugur SA, Durukan M, Tolun A.

Pediatr Int. 2008 Oct;50(5):703-5. doi: 10.1111/j.1442-200X.2008.02712.x. No abstract available.

PMID:
19261126
8.

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C.

Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568.

PMID:
19142996
9.

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr.

Epilepsia. 2009 May;50(5):1167-75. doi: 10.1111/j.1528-1167.2008.01816.x. Epub 2008 Oct 14.

10.

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S.

J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14.

PMID:
18854520
11.

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr.

Eur J Pediatr. 2009 Jun;168(6):697-704. doi: 10.1007/s00431-008-0823-x. Epub 2008 Sep 2.

PMID:
18762976
12.

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.

13.

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
14.

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y.

Mol Genet Metab. 2007 Aug;91(4):384-9. Epub 2007 Apr 11.

PMID:
17433748
15.

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.

16.

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J.

J Inherit Metab Dis. 2007 Feb;30(1):96-9. Epub 2006 Dec 23.

PMID:
17216302
17.

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
18.

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
19.

Folinic acid-responsive seizures initially responsive to pyridoxine.

Nicolai J, van Kranen-Mastenbroek VH, Wevers RA, Hurkx WA, Vles JS.

Pediatr Neurol. 2006 Feb;34(2):164-7.

PMID:
16458834
20.

Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: A hospital based prospective study.

Ramachandrannair R, Parameswaran M.

Eur J Paediatr Neurol. 2005;9(6):409-13. Epub 2005 Oct 27.

PMID:
16257246

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