Article

The pathogenic p.N1662D SCN2A mutation reveals an essential molecular interaction for Na <sub>v</sub> 1.2 channel inactivation

2023-11-13

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the SCN2A gene encoding the Na v 1.2 sodium channel can lead to neurodevelopmental disorders. We studied the N1662D variant associated with severe early-onset developmental and epileptic encephalopathy (DEE). The N1662D mutation almost completely prevented fast inactivation without affecting activation. The comparison of wild-type and N1662D channel structures suggested that the am...

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Literature Corpus work: 707e691b-88bd-5bd9-9974-abd13c6d05be
DOI: 10.1101/2023.11.12.566785

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