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Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four <i>SCN2A</i> variants

2024-02-21

Abstract excerpt

<h4>ABSTRACT</h4> SCN2A gene disorders cover a wide range of medical conditions, from epileptic encephalopathies to neurodevelopmental disorders. The variants of these disorders, studied through electrophysiology, show complex behaviors that go beyond simple classification as either gain or loss of function. In our study, we simulated the biophysical effects of variants ( R937C , V208E , S1336Y , and R853Q )...

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Literature Corpus work
68e500d6-1c62-5fd5-9cca-518a643a5027
DOI
10.1101/2024.02.19.580930
Open publication

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Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four <i>SCN2A</i> variantsDOI 10.1101/2024.02.19.580930
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