Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channels
Elliott Rees, Noa Carrera, Joanne Morgan, Kirsty Hambridge, Valentina Escott‐Price, Andrew J. Pocklington, Alexander L. Richards, Antonio F. Pardiñas, GROUP Investigators, Colm McDonald, Gary J Donohoe, Derek W. Morris, Elaine M. Kenny, Eric Kelleher, Michael Gill, , Michael C. O’Donovan
The paper identifies an excess of rare loss-of-function and missense mutations in voltage-gated sodium channels and synaptic genes associated with schizophrenia using large-scale sequencing and meta-analysis.
bioRxiv · Jan 12, 2018 · PreprintGenetics