De novo Y1460C missense variant in Na(V)1.1 impedes the pore region and results in epileptic encephalopathy

por Plumereau, Quentin, Ebdalla, Aya, Poulin, Hugo, Appendino, Juan Pablo, Scantlebury, Morris H., Au, Ping Yee Billie, Chahine, Mohamed
Publicado 2022