Associations of morphometric abnormalities with clinical and genetic findings in STXBP1 encephalopathy, indicating complex underlying mechanisms.
Disease-causing variants in the syntaxin-binding protein 1 (STXBP1) gene are among the most common genetic causes of developmental and epileptic encephalopathies and are associated with a wide phenotypic spectrum. Qualitative neuroimaging studies are usually unrevealing or uncover variable MRI findings, including cortical atrophy, thin/dysmorphic corpus callosum (CC), hypo/delayed myelination, and focal cortical dysplasia (FCD).
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Lenge et al. (2026) studied this question.
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