TY - JOUR AU - Arnadottir, Gudny A. AU - Jensson, Brynjar O. AU - Marelsson, Sigurdur E. AU - Sulem, Gerald AU - Oddsson, Asmundur AU - Kristjansson, Ragnar P. AU - Benonisdottir, Stefania AU - Gudjonsson, Sigurjon A. AU - Masson, Gisli AU - Thorisson, Gudmundur A. AU - Saemundsdottir, Jona AU - Magnusson, Olafur Th. AU - Jonasdottir, Adalbjorg AU - Jonasdottir, Aslaug AU - Sigurdsson, Asgeir AU - Gudbjartsson, Daniel F. AU - Thorsteinsdottir, Unnur AU - Arngrimsson, Reynir AU - Sulem, Patrick AU - Stefansson, Kari PY - 2017 DA - 2017/10/02 TI - Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters JO - BMC Medical Genetics SP - 103 VL - 18 IS - 1 AB - Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-017-0466-8 DO - 10.1186/s12881-017-0466-8 ID - Arnadottir2017 ER -