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An update on the central nervous system manifestations of tuberous sclerosis complex
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An update on the central nervous system manifestations of tuberous sclerosis complex
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Journal Article
An update on the central nervous system manifestations of tuberous sclerosis complex
2020
Overview
The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an array of manifestations both within and outside of the central nervous system (CNS), including hamartomas and other malformations. TSC is caused by mutations in the
TSC1
or
TSC2
gene resulting in activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. This update reviews the genetic basis of TSC, its cardinal phenotypic CNS features, and recent developments in the field of TSC and other mTOR-altered disorders.
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
