Journal
CURRENT OPINION IN NEUROBIOLOGY
Volume 66, Issue -, Pages 77-84Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.conb.2020.10.005
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Cortical development involves various stages such as neurogenesis, migration, maturation, and myelination of immature neurons. Genetic mutations can result in malformations of cortical development, while mTOR inhibitors may have potential in treating treatment-resistant epilepsy.
Cortical development involves neurogenesis followed by migration, maturation, and myelination of immature neurons. Disruptions in these processes can cause malformations of cortical development (MCD). Radial glia (RG) are the stem cells of the brain, both generating neurons and providing the scaffold upon which immature neurons radially migrate. Germline mutations in genes required for cell migration, or cell?cell contact, often lead to global MCDs. Somatic mutations in RG in genes involved in homeostatic function, like mTOR signaling, often lead to focal MCDs. Two different mutations occurring in the same patient can combine in ways we are just beginning to understand. Our growing knowledge about MCD suggests mTOR inhibitors may have expanded utility in treatment-resistant epilepsy, while imaging techniques can better delineate the type and extent of these lesions.
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