Author

M. Trivisano

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Review Oct 2026

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

This comprehensive characterization of brain MRI abnormalities in SCN2A disease revealed distinct imaging patterns across phenotypic subgroups that highlight the importance of early seizure control, guide counselling of patients and families, and inform MRI interpretation and biomarker research for future clinical tria...

Daniel Bamborschke, Z. Bendella, Meagan Allen et al. · Neurology · 0 citations

Open access Aug 2026

Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy

Cortical dyslamination is suggested as the architectural substrate for the abnormal morphometric parameters and reduced surface areas in patients with STXBP1 encephalopathy, suggesting cortical dyslamination as the architectural substrate for the abnormal morphometric parameters and reduced surface areas.

M. Lenge, Alice Dainelli, S. Balestrini et al. · Neurology: Genetics · 0 citations

Case report Open access Aug 2026

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome

This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.

Graziana Ceraolo, Giulia Spoto, M. Trivisano et al. · International Journal of Mol... · 0 citations