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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cell Rep
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Article
Mynediad Ar-lein: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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