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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Publicat a:Cell Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Article
Accés en línia: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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