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. 2018 Apr 30;26(8):1132–1142. doi: 10.1038/s41431-018-0146-y

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Imaging characteristics patients 1–4 and a normal subject. Brain MRI of patient 1 at age 36 years. Sagittal planes through the midline (a) show a normal corpus callosum, brainstem, and cerebellum. Axial T1-weighed images (b) and T2-weighed images (c) show pachygyria with a posterior to anterior gradient, enlarged posterior horns of the lateral ventricles, and enlarged perivascular spaces. Brain MRI of patient 2 at age 11 years. Sagittal planes (d) show a thin corpus callosum, hypoplasia of the brainstem, and the cerebellar vermis. Axial T2-weighed images (e, f) show diffuse lissencephaly, reduced white matter, and enlarged lateral ventricles and dysplastic basal ganglia. Brain MRI of patient 3 at age 1 year 6 months (g, h) and patient 4 at age 12 months (i, j, k). Sagittal planes (g, i) show a normal appearance of corpus callosum, brainstem, and the cerebellum. Axial T1-weighed images (h, j, k) show pachygyria with a posterior to anterior gradient, enlarged lateral ventricles, and reduced white matter. Brain MRI of a healthy subject (age 4 years). Sagittal image (l). Axial T2-weighed images (m, n)