Pérez, A. 1 , García, L. 1 , Lerma-Usabiaga, G. 1 , Canales-Rodríguez, E. 2, 3 & Carreiras, M. 1, 4, 5
1 Basque Center on Cognition Brain and Language, BCBL
2 Centro de Investigación Biomédica en Red de Salud Mental (CIBERSam)
3 FIDMAG Germanes Hospitalàries
4 Euskal Herriko Unibertsitatea / Universidad del País Vasco EHU/UPV
5 Ikerbasque, Basque Foundation for Science
The aim of this study was to identify differential global and local brain structural patterns in Dravet Syndrome (DS) as compared with a control subject group, using brain morphometry techniques which provide a quantitative whole-brain structural analysis that allows specific patterns to be generalized across series of individuals. 11 patients with the diagnosis of DS (seven with mutations in the SCN1A gene) and 11 well-matched healthy controls were investigated using voxel brain morphometry (VBM) and cortical thickness measurements. Global volume reductions of gray matter (GM) and white matter (WM) were related to DS. Local volume reductions corresponding to several structures: putamen, pallidum, brainstem, the white matter of the right middle frontal gyrus, projection fibers (left anterior thalamic radiation, corticospinal tracts), association fibers (left inferior fronto-occipital fasciculus, left uncinate fasciculus, left cingulum), were also found. Furthermore, DS showed a larger left posterior cingulate cortical thickness. The present findings describe DS-related brain structure abnormalities probably linked to the expression of the SCN1A mutation.