Article

Functional and Pharmacological Evaluation of a Novel <i>SCN2A</i> Variant Linked to Early-onset Epilepsy

2020-04-05

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> We identified a novel de novo SCN2A variant (M1879T) associated with infantile-onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. We analyzed the functional and pharmacological consequences of this variant to establish pathogenicity, and to correlate genotype with phenotype and clinical drug response. <h4>Methods</h4> The clinical and...

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Literature Corpus work: 5329a4ad-0149-5326-8e97-7868c36faffa
DOI: 10.1101/2020.04.03.024489

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