Genetic & Genomic MedicineBrainPeer-reviewed
Delineating clinical and developmental outcomes in STXBP1-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee…·Ingo Helbig
This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.
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