Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
作者信息
Canafoglia Laura, Castellotti Barbara, Ragona Francesca, Freri Elena, Granata Tiziana, Chiapparini Luisa, Gellera Cinzia, Scaioli Vidmer, Franceschetti Silvana, DiFrancesco Jacopo C
机构信息
Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
出版信息
Seizure. 2019 Feb;65:106-108. doi: 10.1016/j.seizure.2019.01.005. Epub 2019 Jan 8.
Abstract
摘要
Zotero 插件