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. Author manuscript; available in PMC: 2021 Apr 22.
Published in final edited form as: Neuron. 2020 Feb 24;106(2):246–255.e6. doi: 10.1016/j.neuron.2020.01.030

Figure 1: Variants in CEP85L cause posterior-specific pachygyria.

Figure 1:

A. Sagittal and axial plane MRI images of a control and affected individuals with posterior reduced gyral folding. B. Three-dimensional MRI presentation of a control and PAC3301 patient with a de novo CEP85L variant. C. Schematic representation of exons of CEP85L shown as blue bars. The variants in CEP85L are found in exons 1 and 2. D. Brain region-specific qPCR of gestational week 23 cortex (GW), demonstrating the increasing rostral-to-caudal expression pattern of CEP85L normalized to β-actin. Orbital (red), somatosensory (green), and visual (blue) cortex. For quantifications, one brain region was analyzed in triplicate or quadruplicate (n=1). p < 0.03 (Student T-test). E. Whole cell lysate from the posterior frontal, parietal and occipital lobes of a GW 23 fetus blotted for CEP85L and the lissencephaly-associated protein, LIS1. Actin and TUJ1 served as a loading control and neuron-specific sampling control, respectively.