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______
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
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 From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Scharer G et al.
Journal of Inherited Metabolic Disease, 2010
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