Journal article
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.
Matteo Lenge, Alice Dainelli, Simona Balestrini, Simona Fiori, Davide Mei, Valerio Conti, Letizia Macconi, Lucy Helena Coulter, Amy L Schneider, Antonio Napolitano, Daniela Longo, Maria Camilla Rossi-Espagnet, Jacopo Proietti, Guja Astrea, Marina Trivisano, Ludovico D'Incerti, Anna Maria Buccoliero, Francesca Darra, Bernardo Dalla Bernardina, Nicola Specchio Show all
Neurol Genet | Published : 2026
Open access
Abstract
BACKGROUND AND OBJECTIVES: 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). METHODS: We used quantitative MRI methods to estimate abnormal brain properties of the cortical mantle and volume of subcortical structures in patients with STXBP1 encephalopathy and age- and sex-matched controls.We performed a region-of-in..
View full abstract