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.
11. 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]
12. 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]
13. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. Toldo I; Bonardi CM; Bettella E; Polli R; Talenti G; Burlina A; Sartori S; Murgia A Eur J Paediatr Neurol; 2018 Nov; 22(6):1042-1053. PubMed ID: 30005813 [TBL] [Abstract][Full Text] [Related]
14. Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. Zabinyakov N; Bullivant G; Cao F; Fernandez Ojeda M; Jia ZP; Wen XY; Dowling JJ; Salomons GS; Mercimek-Andrews S PLoS One; 2017; 12(10):e0186645. PubMed ID: 29053735 [TBL] [Abstract][Full Text] [Related]
15. A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1. Mahajnah M; Corderio D; Austin V; Herd S; Mutch C; Carter M; Struys E; Mercimek-Mahmutoglu S Pediatr Neurol; 2016 Jul; 60():60-5. PubMed ID: 27212567 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). Pena IA; Marques LA; Laranjeira ÂB; Yunes JA; Eberlin MN; MacKenzie A; Arruda P Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):121-128. PubMed ID: 27615426 [TBL] [Abstract][Full Text] [Related]
19. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. Al-Shekaili HH; Petkau TL; Pena I; Lengyell TC; Verhoeven-Duif NM; Ciapaite J; Bosma M; van Faassen M; Kema IP; Horvath G; Ross C; Simpson EM; Friedman JM; van Karnebeek C; Leavitt BR Hum Mol Genet; 2020 Nov; 29(19):3266-3284. PubMed ID: 32969477 [TBL] [Abstract][Full Text] [Related]