ArticleAnnals of clinical and translational neurology2026
Epilepsy-Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties.
Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivePathogenic variants in SCN1A, which encodes the voltage-gated sodium channel Na
methodsWhole-cell manual patch-clamp recording was performed on heterologously expressed Na
resultsWe describe an individual with early infantile-onset DEE associated with SCN1A-I1347T, and identified three additional cases from the literature or ClinVar with distinct variations of the same codon (I1347N, I1347V, I1347F). Functional studies demonstrated mixed function properties for I1347T, I1347V, and I1347F, but complete loss-of-function for I1347N. Structural models suggest important interactions between isoleucine-1347 and the sixth transmembrane helices of domains 3 and 4 that are disrupted most significantly with asparagine replacement at this position (I1347N).
interpretationPathogenic variants in SCN1A involving the same codon can produce divergent functional effects. Our findings suggest that predicting specific functional effects of SCN1A variants should not rely heavily on position in the protein.
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