Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
难治性癫痫伴有偏侧巨脑畸形的 MTOR 和 RPS6 躯体双重打击
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddz194
Cristiana Pelorosso, Françoise Watrin, Valerio Conti, Emmanuelle Buhler, Antoinette Gelot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy-Venneri, Jean-Bernard Manent, Valentina Cetica, Laurel L Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G Gleeson, Renzo Guerrini, Alfonso Represa
