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______
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C et al.
Epilepsy Research, 2024
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA et al.
Biochimie, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M et al.
Frontiers in Pediatrics, 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
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
Ben Younes T et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.
Akinyemi RO et al.
Journal of the Neurological Sciences, 2016
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J et al.
Frontiers in Bioscience (landmark Edition), 2015
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
Tlili A et al.
Gene, 2013
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
Tlili A et al.
Molecular Biology Reports, 2013
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