Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Titel:
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Auteur:
Lehman, Anna Thouta, Samrat Mancini, Grazia M.S. Naidu, Sakkubai van Slegtenhorst, Marjon McWalter, Kirsty Person, Richard Mwenifumbo, Jill Salvarinova, Ramona Guella, Ilaria McKenzie, Marna B. Datta, Anita Connolly, Mary B. Kalkhoran, Somayeh Mojard Poburko, Damon Friedman, Jan M. Farrer, Matthew J. Demos, Michelle Desai, Sonal Claydon, Thomas