These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
354 related articles for article (PubMed ID: 20887371)
1. 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]
2. 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]
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. 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]
5. 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]
6. Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. Ville D; Ginguene C; Marignier S; des Portes V; de Bellescize J Eur J Paediatr Neurol; 2013 Nov; 17(6):676-80. PubMed ID: 23916709 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. Yeghiazaryan NS; Striano P; Spaccini L; Pezzella M; Cassandrini D; Zara F; Mastrangelo M Eur J Paediatr Neurol; 2011 Nov; 15(6):547-50. PubMed ID: 21733724 [TBL] [Abstract][Full Text] [Related]