Open access
Aug 2026
STXBP1 Variants Associated With Epilepsy With Variable Severity
Clinical severity broadly tracks with the predicted structural/biophysical impact of the variant and Munc18‐1 abundance, providing a mechanistic clue for phenotypic heterogeneity in STXBP1‐related disorders.
Meng Xu, Xuan Guo, Zhi-Kui Wang et al.
· CNS Neuroscience & Therapeut... · 0 citations