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Differential effects of sodium channel blockers on <i>SCN8A</i> gain-of-function variants associated with drug-responsive or -resistant epilepsy

2026-05-21

Abstract excerpt

Gain-of-function variants (GOF) in SCN8A , which encodes the Na V 1.6 sodium channel, lead to epilepsy syndromes ranging from drug-responsive self-limited (SeLIE) and intermediate epilepsy to drug-resistant developmental and epileptic encephalopathy (DEE). It is currently unclear why individuals with SCN8A GOF variants show variable responses to sodium channel blockers (SCBs). Here, we compared the clinical cha...

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Identifiers and source

Literature Corpus work
820e5181-e71c-5c6c-9945-53b72b0a1c60
DOI
10.64898/2026.05.21.26353295
Open publication

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