451 related articles for article (PubMed ID: 17068770)
1. 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. PubMed ID: 17068770
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 23350806
[TBL] [Abstract][Full Text] [Related]
3. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18717709
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 17721876
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16491085
[TBL] [Abstract][Full Text] [Related]
7. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S; Plecko B; Gospe SM; Coulter-Mackie M; Connolly M; van Karnebeek C; Mercimek-Mahmutoglu S; Hartmann H; Scharer G; Struijs E; Tein I; Jakobs C; Clayton P; Van Hove JL
Mol Genet Metab; 2011; 104(1-2):48-60. PubMed ID: 21704546
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20887371
[TBL] [Abstract][Full Text] [Related]
9. Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Coci EG; Codutti L; Fink C; Bartsch S; Grüning G; Lücke T; Kurth I; Riedel J
Mol Cell Probes; 2017 Apr; 32():18-23. PubMed ID: 27856333
[TBL] [Abstract][Full Text] [Related]
10. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Mercimek-Mahmutoglu S; Horvath GA; Coulter-Mackie M; Nelson T; Waters PJ; Sargent M; Struys E; Jakobs C; Stockler-Ipsiroglu S; Connolly MB
Pediatrics; 2012 May; 129(5):e1368-72. PubMed ID: 22529283
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 17433748
[TBL] [Abstract][Full Text] [Related]
12. Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
Mercimek-Mahmutoglu S; Donner EJ; Siriwardena K
Mol Genet Metab; 2013; 110(1-2):197. PubMed ID: 23683770
[No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 18854520
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 19142996
[TBL] [Abstract][Full Text] [Related]
15. 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; 518(2):242-5. PubMed ID: 23376216
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 25123644
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 20370816
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 19294602
[TBL] [Abstract][Full Text] [Related]
19. Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Jagadeesh S; Suresh B; Murugan V; Suresh S; Salomans GS; Struys EA; Jacobs C
Paediatr Int Child Health; 2013 May; 33(2):113-5. PubMed ID: 23925287
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 25127453
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
