The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
Open accessAbstract
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 are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in DEPDC5, NPRL2, and TSC1/2, including TSC2 mutations in isolated HME demonstrating a "two-hit" model. Mutations in the same gene cause a disease continuum from FCD to HME to bilateral brain overgrowth, reflecting the progenitor cell and developmental time when the mutation occurred. Single-cell sequencing demonstrated mTOR activation in neurons in all lesions. Conditional Pik3ca activation in the mouse cortex showed that mTOR activation in excitatory neurons and glia, but not interneurons, is sufficient for abnormal cortical overgrowth. These data suggest that mTOR activation in dorsal telencephalic progenitors, in some cases specifically the excitatory neuron lineage, causes cortical dysplasia.
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Cites
Mutation and cancer: statistical study of retinoblastoma
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Self-citationHistopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
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Self-citationSomatic mutation in single human neurons tracks developmental and transcriptional history
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Cited by
mTOR at the nexus of nutrition, growth, ageing and disease
Liu, G. Y., & Sabatini, D. M. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0199-y · Cited by 2,737
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Self-citationDissecting the genetic basis of focal cortical dysplasia: a large cohort study
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Definitions and classification of malformations of cortical development: practical guidelines
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Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Guerrini, R., Conti, V., Mantegazza, M., Balestrini, S., Galanopoulou, A. S., & Benfenati, F. (2023) · Physiological Reviews · doi:10.1152/physrev.00063.2021 · Cited by 196
Metadata
- Authors
- D’Gama, A. M., Woodworth, M. B., Hossain, A. A., Bizzotto, S., Hatem, N. E., LaCoursiere, C. M., Najm, I., Ying, Z., Yang, E., Barkovich, A. J., Kwiatkowski, D. J., Vinters, H. V., Madsen, J. R., Mathern, G. W., Blümcke, I., Poduri, A., & Walsh, C. A.
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2017-12
- Volume
- 21
- Issue
- 13
- Pages
- 3754-3766
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W2777756804
- Cited by
- 328
- References
- 53
- FWCI
- 17.68
- Type
- journal article
- Language
- en
- Open access
- gold
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- D’Gama, A. M., Woodworth, M. B., Hossain, A. A., Bizzotto, S., Hatem, N. E., LaCoursiere, C. M., Najm, I., Ying, Z., Yang, E., Barkovich, A. J., Kwiatkowski, D. J., Vinters, H. V., Madsen, J. R., Mathern, G. W., Blümcke, I., Poduri, A., & Walsh, C. A. (2017). Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Reports. https://doi.org/10.1016/j.celrep.2017.11.106
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
