Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations - Monteiro, Fabiola P; Curry, Cynthia J; Hevner, Robert; Elliott, Stephen; Fisher, Jamie H; Turocy, John; Dobyns, William B; Costa, Larissa A; Freitas, Erika; Kitajima, Joao Paulo; Kok, Fernando (European journal of medical genetics, 2020)