Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

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 of 66 cases (41%). Radiographically indistinguishable lesions...

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Bibliographic Details
Main Authors: Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V. Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Cell Reports
Subjects:
next-generation sequencing
focal cortical dysplasia
single-cell sequencing
brain malformations
hemimegalancephaly
epilepsy
cortical development
somatic mutations
mTOR pathway
excitatory neurons
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124717317904

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http://www.sciencedirect.com/science/article/pii/S2211124717317904

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