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.
204 related articles for article (PubMed ID: 23376216)
1. 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]
2. 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]
3. 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]
4. Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. Tlili A; Hamida Hentati N; Gargouri A; Fakhfakh F Mol Biol Rep; 2013 Jan; 40(1):487-90. PubMed ID: 23054014 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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. PubMed ID: 24613284 [TBL] [Abstract][Full Text] [Related]
9. Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Coulter-Mackie MB; Li A; Lian Q; Struys E; Stockler S; Waters PJ Mol Genet Metab; 2012 Aug; 106(4):478-81. PubMed ID: 22784480 [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. 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]
12. Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1. Haidar Z; Jalkh N; Corbani S; Fawaz A; Chouery E; Mégarbané A Seizure; 2018 Apr; 57():32-33. PubMed ID: 29547829 [TBL] [Abstract][Full Text] [Related]
13. 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]
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]