Associated Papers
Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.
Tian X et al.
Pediatric Research, 2026
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
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C et al.
Epilepsy Research, 2024
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Arntsen V et al.
Frontiers in Neurology, 2024
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Yang L et al.
Clinical Genetics, 2022
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.
Jiao X et al.
Frontiers in Genetics, 2022
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
Jiao X et al.
Frontiers in Genetics, 2021
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
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao X et al.
Developmental Medicine and Child Neurology, 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
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Falsaperla R et al.
Metabolic Brain Disease, 2018
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
[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl].
Yang L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Xue J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
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
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
Yang Z et al.
Plos One, 2014
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Yang ZX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013