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
40979201 (PubMed )
Supplement: Table_1.xlsx › HGMD______
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
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
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Jiao X et al.
Developmental Medicine and Child Neurology, 2020
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
Zhang Y et al.
Plos One, 2015
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