SCN1A gene mutations disrupt sodium channel (NaV1.1) function, causing childhood epilepsy which can be severe. Predicting functional consequences in these children is challenging and new prognostic imaging biomarkers are needed. Sodium MRI directly assesses brain sodium and is a potential in vivo imaging biomarker. Using a multiecho sodium sequence, at 7T, we found children with SCN1A mutations had increased relative sodium concentrations across a large number of brain regions compared to controls. The cause of this change is likely complex, and may reflect an interplay between neuronal/axonal/glial dysfunction – with disruptions in microstructure and physiology – and possible medication effects.
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Cleary et al. (2024) studied this question.
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