A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

Focal cortical dysplasia type II (FCDII) is a cerebral cortex malformation characterized by local cortical structure disorganization, neuronal dysmorphology, and refractory epilepsy. Brain somatic mutations in several genes involved in the PI3K/AKT/mTOR pathway are associated with FCDII, but they ar...

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Pubblicato in:Exp Mol Med
Autori principali: Zhao, Shanshan, Li, Zhenghui, Zhang, Muxian, Zhang, Lingliang, Zheng, Honghua, Ning, Jinhuan, Wang, Yanyan, Wang, Fengpeng, Zhang, Xiaobin, Gan, Hexia, Wang, Yuanqing, Zhang, Xian, Luo, Hong, Bu, Guojun, Xu, Huaxi, Yao, Yi, Zhang, Yun-wu
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6802736/
https://ncbi.nlm.nih.gov/pubmed/31337748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s12276-019-0277-4
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