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Inheritance of the SCN8A variant P1719R in a family with essential myoclonus. A: Pedigree demonstrating coinheritance of myoclonus and the SCN8A variant (c. 5156C > G, P1719R). Filled symbols, isolated myoclonus. B: Four‐domain structure of the voltage‐gated sodium channel alpha subunit. P1719R is located in the pore loop of domain IV. C: Evolutionary conservation of residue P1719R in multiple species. h, human; m, mouse; c, chicken; a, anole; z, zebrafish
