Genes associated with channelopathies (SCN4A, CACNA1S, KCNJ2, CLCN1) or congenital myasthenic syndrome and related disorders (CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN, CHAT, MUSK, COLQ, DOK7, AGRN, GFPT1, DPAGT1, LAMB2, CHRNG, PLEC) were specifically checked. Here, CACNA1S is linked to congenital myasthenic syndrome.