Open access
Aug 2026
Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing
Functional analysis of all 65 variants revealed that ion channel genes and neurodevelopmental genes were the most frequently affected categories, and whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders.
Shan Hong, Dan-Dan Han, Ming Qi et al.
· Annals of Medicine and Surge... · 0 citations