Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27/66 cases (41%). Radiographically indistinguishable lesions are...

詳細記述

保存先:
書誌詳細
出版年:Cell Rep
主要な著者: D’Gama, Alissa M., Woodworth, Mollie B., Hossain, Amer A., Bizzotto, Sara, Hatem, Nicole E., LaCoursiere, Christopher M., Najm, Imad, Ying, Zhong, Yang, Edward, Barkovich, A. James, Kwiatkowski, David J., Vinters, Harry V, Madsen, Joseph R., Mathern, Gary W., Blümcke, Ingmar, Poduri, Annapurna, Walsh, Christopher A.
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5752134/
https://ncbi.nlm.nih.gov/pubmed/29281825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2017.11.106
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