A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (vol 47, pg 39, 2015)

作者:Muona Mikko; Berkovic Samuel F; Dibbens Leanne M; Oliver Karen L; Maljevic Snezana; Bayly Marta A; Joensuu Tarja; Canafoglia Laura; Franceschetti Silvana; Michelucci Roberto; Markkinen Salla; Heron Sarah E; Hildebrand Michael S; Andermann Eva; Andermann Frederick; Gambardella Antonio; Tinuper Paolo; Licchetta Laura; Scheffer Ingrid E; Criscuolo Chiara; Filla Alessandro; Ferlazzo Edoardo; Ahmad Jamil; Ahmad Adeel; Baykan Betul; Said Edith; Topcu Meral
来源:Nature Genetics, 2015, 47(1).
  • 出版日期2015-1