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______
Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms.
Hofman J et al.
Brain Sciences, 2020
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
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Toldo I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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
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