Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
KCNQ5 的功能丧失和功能获得突变导致智力障碍或癫痫性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.05.016
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova; CAUSES Study; EPGEN Study; Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Frie
