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Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

2023-02-21

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<h4>ABSTRACT</h4> SCN1A gain-of-function variants are associated with early onset developmental and epileptic encephalopathies (DEEs) that possess distinct clinical features compared to Dravet syndrome caused by SCN1A loss-of-function. However, it is unclear how SCN1A gain-of-function may predispose to cortical hyper-excitability and seizures. Here, we first report the clinical features of a patient carrying a...

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Literature Corpus work: 180ffdd5-80c5-570c-9eef-12b649d969db
DOI: 10.1101/2023.02.20.529310

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Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticityDOI 10.1101/2023.02.20.529310Read

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Biophysical characterization and modeling of <i>SCN1A</i> gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

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