Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia
Abstract Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog enriched in brain (RHEB) variants. The somatic varia...
Main Authors: | Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-02-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.51286 |
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