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    • De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. 

      Ambrosino, P.; Soldovieri, M. V.; Bast, T.; Turnpenny, Peter D.; Uhrig, S.; Biskup, S.; Döcker, M.; Fleck, T.; Mosca, I.; Manocchio, L.; Iraci, N.; Taglialatela, M.; Lemke, J. R. (Wiley, 2018-05-08)
      Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report two females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome ...