Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Ravi K NadellaAnirudh ChellappaAnand G SubramaniamRavi Prabhakar MoreSrividya ShettySuriya PrakashNikhil RatnaV P VandanaMeera PurushottamJitender SainiBiju ViswanathP S BinduMadhu NagappaBhupesh MehtaSanjeev JainRamakrishnan KannanPublished in: Human genomics (2019)
Altogether, our findings implicate the role of new genes in SeSAME syndrome without electrolyte imbalance and thereby speculate the regulation of Kir4.1 channel activity by PIP2 and integrin-mediated adhesion signaling mechanisms.