JUL 16, 2026 · JOURNAL ARTICLE
From synaptic dysfunction to targeted intervention: a comprehensive review of STXBP1 encephalopathy and precision therapeutic strategies
Epilepsy & Behavior
A comprehensive narrative review synthesizing mechanistic understanding and therapeutic evidence across multiple modalities for a rare monogenic encephalopathy, intended to inform clinical practice and research strategy.
Reported
Estimated prevalence1 in 30,000–40,000 individuals
Number of pathogenic variants ide…Over 300
Proportion achieving independent…roughly half