Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Sundaramoorthy GopiBabu KavithaSekar KanthimathiAlagarsamy KannanRakesh KumarRajesh JoshiSwati KanodiaArchana Dayal AryaSanket PendseySharad PendseyPalany RaghupathyViswanathan MohanVenkatesan RadhaPublished in: Pediatric diabetes (2020)
This is the first largest study in NDM patients in India demonstrating the importance of KATP channel gene mutation screening in PNDM and efficacy of glibenclamide for Indian patients with KATP -PNDM. The success rate of transfer is more in patients with KCNJ11 mutations compared with those with ABCC8 mutations.