SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.
作者信息
Canafoglia Laura, Franceschetti Silvana, Granata Tiziana, Messina Giuliana, Solazzi Roberta, Ragona Francesca, Freri Elena, Scaioli Vidmer, Nardocci Nardo, Gellera Cinzia, Panzica Ferruccio, DiFrancesco Jacopo C, Castellotti Barbara
机构信息
Unit of Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
出版信息
Seizure. 2020 Nov;82:56-58. doi: 10.1016/j.seizure.2020.09.011. Epub 2020 Sep 23.
Abstract
摘要
Zotero 插件