Pathogenic potential was established using four criteria (MacArthur et al., 2014): (1) low variant frequency in the human population, classifying as a mutation (Miller et al., 2021), (2) variant alters BK channel gating properties, (3) variant alters neuronal BK currents and firing, since the channelopathy is a neurological disorder, and (4) variant produces phenotypes similar to the central patient diagnoses— seizure susceptibility and PNKD. Here, KCNMA1 is linked to nervous system disorder.