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
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Boonsimma P et al.
European Journal of Human Genetics : Ejhg, 2023
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
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA et al.
Biochimie, 2021
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao X et al.
Developmental Medicine and Child Neurology, 2020
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
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
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
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