Brain Somatic Variant in Ras-Like Small GTPase RALA Causes Focal Cortical Dysplasia Type II

PurposeIn our group’s previous study, we performed deep whole-exome sequencing and targeted amplicon sequencing in the postoperative brain tissue of epilepsy patients with focal cortical dysplasia type II (FCD II). We identified the first somatic variant of RALA in the brain tissue of a child with F...

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Detalhes bibliográficos

Principais autores:	Han Xu, Kai Gao, Qingzhu Liu, Tianshuang Wang, Zhongbin Zhang, Lixin Cai, Ye Wu, Yuwu Jiang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-06-01
coleção:	Frontiers in Behavioral Neuroscience
Assuntos:	pediatric drug-resistant epilepsy FCD II somatic mutation RalA mTOR pathway
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnbeh.2022.919485/full
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