Fig. 1

MRI Findings of Patient A with TUBG1 p.Asp68Asn mutation and Patient B with TUBG1 p.Arg341Trp mutation. a Sagittal T1-weighted MPRAGE image demonstrates reduced craniofacial ratio in this child with microcephaly and posteriorly predominant simplified cortical gyri. The cerebellar vermis is normal. The corpus callosum appears slightly thick. b and c Coronal (b) T1 weighted MPRAGE and (c) Coronal T2 weighted fast spin echo images demonstrating bilateral parietal band heterotopia, more pronounced on the left (arrow). d Axial T1 weighted MPRAGE image shows bilateral blurring of the grey-white interface along the central sulci, in keeping with focal cortical dysplasia (arrows). e Sagittal T1-weighted image demonstrates microcephaly, intact corpus callosum and normal pituitary. The pons and cerebellar vermis are small for gestational age, but are notably less affected than the supratentorial brain. f and g Coronal (f) and axial (g) T2-weighted images demonstrating dilated lateral ventricles and simplified gyral pattern. In (f) there is prominence of the cerebellar folia but normal-appearing dentate nuclei. In (g) the basal ganglia and thalami are small and poorly defined, with absent myelination of the posterior limb of internal capsule