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The mTOR pathway genes <i>mTOR</i> , <i>Rheb</i> , <i>Depdc5</i> , <i>Pten</i> , and <i>Tsc1</i> have convergent and divergent impacts on cortical neuron development and function

2023-08-12

Abstract excerpt

<h4>ABSTRACT</h4> Brain somatic mutations in various components of the mTOR complex 1 (mTORC1) pathway have emerged as major causes of focal malformations of cortical development and intractable epilepsy. While these distinct gene mutations converge on excessive mTORC1 signaling and lead to common clinical manifestations, it remains unclear whether they cause similar cellular and synaptic disruptions underlying c...

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Literature Corpus work
fed9a86d-f517-5883-b2dd-572f2155eed0
DOI
10.1101/2023.08.11.553034
Open publication

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The mTOR pathway genes <i>mTOR</i> , <i>Rheb</i> , <i>Depdc5</i> , <i>Pten</i> , and <i>Tsc1</i> have convergent and divergent impacts on cortical neuron development and functionDOI 10.1101/2023.08.11.553034
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