Figure 1.

MRI and mutation analysis in hemimegalencephaly. (a) Axial T2-weighted brain MRI of cases identified with mutations. Arrows indicate the affected hemispheres, showing thickened cortical mantle, changes in white matter signal and alterations in ventricular shape, resulting in increased hemispheric size and midline shift of falx cerebri. (b) Sequencing counts from exome sequencing of each of three brain-blood paired samples. Mut, mutation; ref, reference. (c) Mass spectrometry validation of mutations. Wild-type sequences (blue) and de novo mutations (red) are correlated with results from next-generation sequencing.