Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis

Tuberous sclerosis complex (TSC) represents the prototypic monogenic disorder of the mammalian target of rapamycin (mTOR) pathway dysregulation. It provides the rational mechanistic basis of a direct link between gene mutation and brain pathology (structural and functional abnormalities) associated with a complex clinical phenotype including epilepsy, autism, and intellectual disability. So far, research conducted in TSC has been largely neuron-oriented. However, the neuropathological hallmarks of TSC and other malformations of cortical development also include major morphological and functional changes in glial cells involving astrocytes, oligodendrocytes, NG2 glia, and microglia. These cells and their interglial crosstalk may offer new insights into the common neurobiological mechanisms underlying epilepsy and the complex cognitive and behavioral comorbidities that are characteristic of the spectrum of mTOR-associated neurodevelopmental disorders. This review will focus on the role of glial dysfunction, the interaction between glia related to mTOR hyperactivity, and its contribution to epileptogenesis in TSC. Moreover, we will discuss how understanding glial abnormalities in TSC might give valuable insight into the pathophysiological mechanisms that could help to develop novel therapeutic approaches for TSC or other pathologies characterized by glial dysfunction and acquired mTOR hyperactivation.
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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Authors: Kim JS, Hong SH, Kim WS PMID: 33029988 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kim EH, Shim WH, Lee JS, Yoon HM, Ko TS, Yum MS Abstract BACKGROUND AND PURPOSE: Recent quantitative neuroimaging studies of childhood absence epilepsy (CAE) have identified various structural abnormalities that might be involved in the onset of absence seizure and associated cognitive and behavioral functions. However, the neuroanatomical alterations specific to CAE remain unclear, and so this study investigated the regional alterations of brain structures associated with newly diagnosed CAE. METHODS: Surface and volumetric magnetic resonance imaging data of patients with newly diagnosed CAE (n=18) an...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Seo JG, Cho YW, Kim KT, Kim DW, Yang KI, Lee ST, Byun JI, No YJ, Kang KW, Kim D, Drug Committee of Korean Epilepsy Society Abstract The incidence and prevalence of epilepsy are highest in elderly people, and the etiologies of epilepsy in the elderly differ from those in other age groups. Moreover, diagnosing and treating epilepsy in elderly people may be challenging due to differences in clinical characteristics and physiological changes associated with aging. This review focuses on the pharmacological treatment of epilepsy in elderly patients. PMID: 33029960 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Jang Y, Kim DW, Yang KI, Byun JI, Seo JG, No YJ, Kang KW, Kim D, Kim KT, Cho YW, Lee ST, Drug Committee of Korean Epilepsy Society Abstract Autoimmune epilepsy is a newly emerging area of epilepsy. The concept of "autoimmune" as an etiology has recently been revisited thanks to advances in autoimmune encephalitis and precision medicine with immunotherapies. Autoimmune epilepsy presents with specific clinical manifestations, and various diagnostic approaches including cerebrospinal fluid analysis, neuroimaging, and autoantibody tests are essential for its differential diagnosis. The diagnosis is o...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
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Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
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Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
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