Bookshelf

Magnetic resonance imaging scans of individuals with SCN3A-related neurodevelopmental disorder

A. MRI of the brain of a person with profound global developmental delay and treatment-resistant epilepsy at age two years who had a de novo heterozygous p.Ile875Thr pathogenic variant in SCN3A. (i) Axial T₁- and (ii) T₂-weighted FLAIR images illustrate diffuse malformation of cortical development with thickening of the cerebral cortex and features of polymicrogyria/dysgyria.

B. MRI of the brain of a person with developmental delay and treatment-resistant epilepsy at age eight months who has a de novo heterozygous p.Pro1333Leu pathogenic variant in SCN3A. (i) Axial T₁- and (ii) T₂-weighted FLAIR images show thinning of the corpus callosum and nonspecific sulcal prominence without gross brain malformation.

C. MRI of the brain of another person with developmental delay and treatment-resistant epilepsy at age five months who has a de novo heterozygous p.Ile875Thr pathogenic variant in SCN3A. (i) Axial T₁- and (ii) T₂-weighted FLAIR images demonstrate diffuse malformation of cortical development and dysgyria with prominent involvement of the bilateral perisylvian and frontoparietal involvement.