Natural history study demonstrates poorer motor and language development in STXBP1 disorder patients with early-onset epilepsy, highlighting key risk markers for future trials.
We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset presented with less favorable motor and language functional outcomes compared with individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders.
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Thalwitzer et al. (2023) studied this question.
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