Associated Papers
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA et al.
Biochimie, 2021
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR et al.
Journal of Inherited Metabolic Disease, 2019
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2014
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