Browsing Centre for Psychiatry by Subject "Mutation"

Now showing items 1-2 of 2

    • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 

      Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL (2019-05-02)
      The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight ...

    • Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. 

      Leonenko, G; Richards, AL; Walters, JT; Pocklington, A; Chambert, K; Al Eissa, MM; Sharp, SI; O'Brien, NL; Curtis, D; Bass, NJ (2017-10)
      Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous ...