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______
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F et al.
Bmc Neurology, 2023
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA et al.
Biochimie, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
Nam SH et al.
Annals of Clinical and Laboratory Science, 2012
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