Shamseldin HE, et al. Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy. Am J Hum Genet 2016;98(1):210-215. PMID:26708753.
Stray-Pedersen A, et al. Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability. Am J Hum Genet;98(1):202-209. PMID:26708751.