Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
PIK3C2B基因突变导致的脂质信号传导缺陷是局灶性癫痫的根本原因。
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awac082
Luca Gozzelino ,Gaga Kochlamazashvili ,Sara Baldassari ,Albert Ian Mackintosh ,Laura Licchetta ,Emanuela Iovino ,Yu Chi Liu ,Caitlin A Bennett ,Mark F Bennett ,John A Damiano ,Gábor Zsurka ,Caterina Marconi ,Tania Giangregorio ,Pamela Magini ,Marijn Kuijpers ,Tanja Maritzen ,Giuseppe Danilo Norata ,Stéphanie Baulac ,Laura Canafoglia ,Marco Seri ,Paolo Tinuper ,Ingrid E Scheffer ,Melanie Bahlo ,Samuel F Berkovic ,Michael S Hildebrand ,Wolfram S Kunz ,Lucio Giordano ,Francesca Bisulli ,Miriam Martini ,Volker Haucke ,Emilio Hirsch ,Tommaso Pippucci