KCNJ10 and EAST syndrome: The KCNJ10 mutations responsible for EAST/SeSAME syndrome have been shown to be T57I, R65P, R65C (cytoplasmic end of TM-1), F75L, F75C, G77R (TM-1), V91Gfs*197, F119Gfs*25, C140R (extracellular loop between TM-1 and TM-2), T164I, A167V (TM-2), R175Q, R199X, R240H, V259*, G275Vfs*7, and R297C (C-terminal domain) (51–64).