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Author

Michael F. Hammer

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Open access Sep 2026

Molecular context of pathogenic variants is associated with phenotype and treatment response in SCN8A-related disorders

Objectives Genotype–phenotype studies in rare epilepsies typically relate a pathogenic DNA sequence change to clinical outcome, without considering the broader molecular context of a given variant. Here we ask whether clinical heterogeneity in SCN8A-related disorders (SCN8A-RD) is patterned along molecular dimensions t...

Joshua B. Hack, Joseph C. Watkins, Michael F. Hammer · 0 citations

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