Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive infantile-onset syndrome. The condition is characterized by hypotonia, global developmental delay, seizures and rapid brain atrophy. It has been reported that mutations in SLC31A1 cause this syndrome. SLC31A1 encodes a high-affinity copper uptake protein CTR1 that is essential for mammalian development and copper homeostasis.
