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

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 variant load d...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Lee, Wei Shern, Baldassari, Sara, Chipaux, Mathilde, Adle‐Biassette, Homa, Stephenson, Sarah E. M., Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7886042/
https://ncbi.nlm.nih.gov/pubmed/33434304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51286
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