Article

Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties

2025-10-17

Abstract excerpt

<h4>Objective</h4> Pathogenic variants in SCN1A, which encodes the voltage gated sodium channel Na V 1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. Loss or gain of function SCN1A variants are reported in different syndromes including Dravet syndrome, which is associated with loss-of-function whereas neonatal/infantile-onset developmental and epileptic encephalopathy...

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Literature Corpus work: 541843a4-3df6-53f9-be64-d1a579b4f010
DOI: 10.1101/2025.10.16.682932

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