Struys EA - Search Results

1

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. Striano P, et al. Among authors: struys ea. Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x. Epilepsia. 2009. PMID: 18717709 Free article.

2

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. Oliveira R, et al. Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610. Epileptic Disord. 2013. PMID: 24184718 Free article.

3

Novel mutations in pyridoxine-dependent epilepsy.

Millet A, Salomons GS, Cneude F, Corne C, Debillon T, Jakobs C, Struys E, Hamelin S. Millet A, et al. Eur J Paediatr Neurol. 2011 Jan;15(1):74-7. doi: 10.1016/j.ejpn.2010.03.011. Epub 2010 Apr 28. Eur J Paediatr Neurol. 2011. PMID: 20427214

4

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. Salomons GS, et al. Among authors: struys ea. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

5

Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.

Been JV, Bok LA, Willemsen MA, Struys EA, Jakobs C. Been JV, et al. Among authors: struys ea. Arq Neuropsiquiatr. 2008 Jun;66(2A):288; author reply 288-9. doi: 10.1590/s0004-282x2008000200035. Arq Neuropsiquiatr. 2008. PMID: 18545806 Free article. No abstract available.

6

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. Kaczorowska M, et al. Among authors: struys ea. J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14. J Child Neurol. 2008. PMID: 18854520

7

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. Gallagher RC, et al. Among authors: struys ea. Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568. Ann Neurol. 2009. PMID: 19142996

8

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Milh M, Pop A, Kanhai W, Villeneuve N, Cano A, Struys EA, Salomons GS, Chabrol B, Jakobs C. Milh M, et al. Among authors: struys ea. Mol Genet Metab. 2012 Apr;105(4):684-6. doi: 10.1016/j.ymgme.2012.01.011. Epub 2012 Jan 20. Mol Genet Metab. 2012. PMID: 22305855

9

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. Mills PB, et al. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085

10

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. Plecko B, et al. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770

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