%0 Journal Article
%T A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0043-0
%X Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C£¿>£¿T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia
%U https://www.nature.com/articles/s41439-019-0043-0