KCNC1 and Progressive myoclonic epilepsy: A frameshifting variant in the KCNC1 gene associated with progressive myoclonic epilepsy 7 (EPM7, ClinVar ID: 692088) causes premature termination at K457 (located within the ATM, Fig. 1f) and therefore deletes many of the residues involved in this T1/ C-terminal interaction.