Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51286

Internet

https://doi.org/10.1002/acn3.51286

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