Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.
对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200344
Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta