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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Cell Rep
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2017
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Article
Linkit: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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