Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Ann Clin Transl Neurol
; 8(2): 485-490, 2021 02.
Article
em En
| MEDLINE
| ID: mdl-33434304
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 variant load directly correlated with the size of the malformation, with upregulated mTOR activity confirmed in dysplastic tissues. Laser capture microdissection showed enrichment of RHEB variants in dysmorphic neurons and balloon cells. Our findings support the role of RHEB in a spectrum of cortical malformations confirming that FCD and HME represent a disease continuum, with the extent of dysplastic brain directly correlated with the somatic variant load.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Epilepsia
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Malformações do Desenvolvimento Cortical
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Hemimegalencefalia
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Proteína Enriquecida em Homólogo de Ras do Encéfalo
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Neurônios
Tipo de estudo:
Etiology_studies
Limite:
Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article