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- W2582025421 endingPage "571" @default.
- W2582025421 startingPage "547" @default.
- W2582025421 abstract "Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are highly associated with medication-resistant epilepsy and are the most common cause of neocortical epilepsy in children. FCDs are a heterogeneous group of developmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3K/Akt/mTOR pathway—a key pathway in neuronal growth and migration. Accordingly, FCDs are characterized by abnormal cortical lamination, cell morphology (e.g., cytomegaly), and cellular polarity. In some FCD subtypes, balloon cells express proteins typically seen in neuroglial progenitor cells. Because recurrent intractable seizures are a common feature of FCDs, epileptogenic electrophysiological properties are also observed in addition to local inflammation. Here, we will summarize the current literature regarding FCDs, addressing the current classification system, histopathology, molecular genetics, electrophysiology, and transcriptome and cell signaling changes." @default.
- W2582025421 created "2017-02-03" @default.
- W2582025421 creator A5039136394 @default.
- W2582025421 creator A5071437236 @default.
- W2582025421 date "2017-01-24" @default.
- W2582025421 modified "2023-10-11" @default.
- W2582025421 title "Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications" @default.
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