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01-04-2020 | Astrocytoma | Review

An update on the central nervous system manifestations of tuberous sclerosis complex

Author: Jennifer A. Cotter

Published in: Acta Neuropathologica | Issue 4/2020

Abstract

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.

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Title: An update on the central nervous system manifestations of tuberous sclerosis complex
Author: Jennifer A. Cotter
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Keywords: Astrocytoma
Hamartoma
Tuberous Sclerosis
Astrocytoma
Astrocytoma
Published in: Acta Neuropathologica / Issue 4/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-019-02003-1

At a glance: The STEP trials

Springer Medicine

An update on the central nervous system manifestations of tuberous sclerosis complex

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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