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. 2022 Oct 13;146(4):1342–1356. doi: 10.1093/brain/awac376

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© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

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Novel association between large chromosome 1q duplications that include AKT3 and type 2 FCD with hyaline astrocytic inclusions. (A) Genomic coordinates of two large patient somatic duplications at 1q21-q44. Both duplications cover the established lesional epilepsy gene AKT3, as well as additional genes of potential interest. Breakpoints of both somatic duplications are similar. (B and C) Histopathology findings were remarkably similar in both cases, showing hyaline astrocytic inclusions (arrows in B and C) next to FCD 2a.