Recently, as SOCE is the major mechanism that regulates the Ca2+ homeostasis that is facilitated by the two partners STIM1 and Orai1, Böhm et al. reported that Orai1 mutations, which have distinct channel gating defects, are associated beside Stormorken Syndrome and tubular aggregate myopathy (TAM) [36]. This evidence concerns the gene ORAI1 and Stormorken-Sjaastad-Langslet syndrome.