Liu H, Iyer L, Norris P, Liu R, Yu K, Grant M
Nat Plants. 2025; 11(2):263-278.
PMID: 39953358
DOI: 10.1038/s41477-025-01906-0.
Pena I, Shi J, Chang S, Yang J, Block S, Adelmann C
Nat Commun. 2025; 16(1):978.
PMID: 39856062
PMC: 11760969.
DOI: 10.1038/s41467-025-56130-3.
Jaber R, Salame H, Zeindeen M, Jawad A, Fawaz H, Alasmar D
BMC Neurol. 2024; 24(1):430.
PMID: 39501195
PMC: 11536958.
DOI: 10.1186/s12883-024-03936-1.
Jiao X, Gong P, Niu Y, Xu Z, Zhou Z, Yang Z
Beijing Da Xue Xue Bao Yi Xue Ban. 2024; 56(5):781-787.
PMID: 39397454
PMC: 11480537.
Khalil Y, Footitt E, Vootukuri R, Wempe M, Coughlin 2nd C, Batzios S
J Inherit Metab Dis. 2024; 48(1):e12783.
PMID: 39038845
PMC: 11670438.
DOI: 10.1002/jimd.12783.
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.
Dixon M, Millington C, Bernstein L, Coughlin 2nd C, Drumm M, Gaughan S
JIMD Rep. 2024; 65(3):188-203.
PMID: 38736635
PMC: 11078710.
DOI: 10.1002/jmd2.12418.
Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
Korasick D, Buckley D, Palpacelli A, Cursio I, Cesaroni E, Cheng J
Chem Biol Interact. 2024; 394:110993.
PMID: 38604394
PMC: 11073572.
DOI: 10.1016/j.cbi.2024.110993.
Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy.
Yan J, Wu J, Xu M, Wang M, Guo W
Sci Adv. 2024; 10(14):eadl2764.
PMID: 38579001
PMC: 10997211.
DOI: 10.1126/sciadv.adl2764.
Utility and limitations of EEG in the diagnosis and management of -related pyridoxine-dependent epilepsy. A retrospective observational study.
Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G
Front Neurol. 2024; 15:1355861.
PMID: 38419708
PMC: 10899485.
DOI: 10.3389/fneur.2024.1355861.
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D, Pan Q, Ascher D
Int J Mol Sci. 2023; 24(12).
PMID: 37373306
PMC: 10299257.
DOI: 10.3390/ijms241210157.
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies.
Pearl P, Tokatly Latzer I, Lee H, Rotenberg A
Neurology. 2023; 101(3):124-133.
PMID: 36878704
PMC: 10382274.
DOI: 10.1212/WNL.0000000000207133.
Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too.
Chidambaram A, Talwar M, Kasinathan A, Gulati R, Selvan T
J Pediatr Genet. 2023; 12(1):73-75.
PMID: 36684551
PMC: 9848765.
DOI: 10.1055/s-0040-1721137.
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.
Bohm H, Yazdani M, Sandas E, Osteby Vassli A, Kristensen E, Rootwelt H
Int J Mol Sci. 2022; 23(24).
PMID: 36555701
PMC: 9784804.
DOI: 10.3390/ijms232416061.
ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals.
Lin C, Nfor O, Ho C, Hsu S, Tantoh D, Liaw Y
Nutr Metab (Lond). 2022; 19(1):70.
PMID: 36258220
PMC: 9580139.
DOI: 10.1186/s12986-022-00702-3.
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp R, Engelke U, Hendriks V, Wevers R, Huigen M
Commun Biol. 2022; 5(1):997.
PMID: 36131087
PMC: 9492674.
DOI: 10.1038/s42003-022-03960-2.
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.
Kim J, Pipitone Dempsey A, Kim S, Gunay-Aygun M, Vernon H
Case Rep Genet. 2022; 2022:7138435.
PMID: 36082373
PMC: 9448604.
DOI: 10.1155/2022/7138435.
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.
Aquilano G, Linner A, Ygberg S, Stodberg T, Henckel E
Front Pediatr. 2022; 10:940103.
PMID: 35967578
PMC: 9366515.
DOI: 10.3389/fped.2022.940103.
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.
Tseng L, Teela L, Janssen M, Bok L, Willemsen M, Neuteboom R
Mol Genet Metab Rep. 2022; 31:100853.
PMID: 35782612
PMC: 9248223.
DOI: 10.1016/j.ymgmr.2022.100853.
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Yang H, Yang X, Cai F, Gan S, Yang S, Wu L
Sci Rep. 2022; 12(1):10187.
PMID: 35715422
PMC: 9205988.
DOI: 10.1038/s41598-022-13974-9.
The Clinical Features and Long-Term Follow-Up of Vitamin B6-Responsive Infantile Spasms in a Chinese Cohort.
Jiao X, Gong P, Niu Y, Xu Z, Wu Y, Zhang Y
Front Neurol. 2022; 13:895978.
PMID: 35645976
PMC: 9134116.
DOI: 10.3389/fneur.2022.895978.