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...

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Publicado no:Cell Rep
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha: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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