KCNA1 and epilepsy: Of the KCNA1 variants occurring outside of the S5–S6 pore domain, only 18% (7/40, not counting the P264LfsTer10 variant) cause epilepsy or seizure phenotypes, and these seem to primarily affect locations that control voltage-sensing or that indirectly affect pore function by influencing the stability of the open-state configuration of the channel [2].