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Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability <i>via</i> overactivation of neuronal GluN2C NMDA receptors

2023-12-02

Abstract excerpt

<h4>Objective</h4> Genetic variations in proteins of the mechanistic target of rapamycin (mTOR) pathway cause a spectrum of neurodevelopmental disorders often associated with brain malformations and with intractable epilepsy. The mTORopathies are characterized by hyperactive mTOR pathway and comprise tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) type II. How hyperactive mTOR translates into...

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Literature Corpus work
57bd73d1-9344-5e3d-961a-87bb6d85c130
DOI
10.1101/2023.12.01.569539
Open publication

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Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability <i>via</i> overactivation of neuronal GluN2C NMDA receptorsDOI 10.1101/2023.12.01.569539
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