Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
PRRT2基因突变会导致阵发性运动诱发性运动障碍伴婴儿惊厥
期刊:Cell Reports
影响因子:6.9
doi:10.1016/j.celrep.2011.11.001
Lee, Hsien-Yang; Huang, Yong; Bruneau, Nadine; Roll, Patrice; Roberson, Elisha D O; Hermann, Mark; Quinn, Emily; Maas, James; Edwards, Robert; Ashizawa, Tetsuo; Baykan, Betul; Bhatia, Kailash; Bressman, Susan; Bruno, Michiko K; Brunt, Ewout R; Caraballo, Roberto; Echenne, Bernard; Fejerman, Natalio; Frucht, Steve; Gurnett, Christina A; Hirsch, Edouard; Houlden, Henry; Jankovic, Joseph; Lee, Wei-Ling; Lynch, David R; Mohammed, Shehla; Müller, Ulrich; Nespeca, Mark P; Renner, David; Rochette, Jacques; Rudolf, Gabrielle; Saiki, Shinji; Soong, Bing-Wen; Swoboda, Kathryn J; Tucker, Sam; Wood, Nicholas; Hanna, Michael; Bowcock, Anne M; Szepetowski, Pierre; Fu, Ying-Hui; Ptáček, Louis J