Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1
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
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Minenkova A et al.
Plos One, 2021
34495967 (PubMed )
Supplement: pone.0257073.s003.docx
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Akiyama T et al.
Pediatric Neurology, 2020
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao X et al.
Developmental Medicine and Child Neurology, 2020
Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability.
Wang S et al.
Experimental and Therapeutic Medicine, 2017
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Xue J et al.
Epilepsy Research, 2015
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
Tamaura M et al.
Brain & Development, 2015
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