Frequent mutations of KCNJ10 in the EAST/SeSAME syndrome were R65P at the cytoplasmic end of the TM-1 region, G77R at TM-1, C140R at an extracellular loop between TM-1 and TM-2, T164I, and A167V at the cytoplasmic end of TM-2, R175Q, R199X, and R297C at the C-terminal domain [26,57,58]. The gene discussed is KCNJ10; the disease is EAST syndrome.