De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

STRINGER, Robin Nicholas, JURKOVICOVA-TARABOVA, B., SOUZA, I. A., IBRAHIM, J., VACÍK, T., FATHALLA, W. M., HERTECANT, J., ZAMPONI, G. W., LACINOVÁ, L., WEISS, Norbert. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy. Molecular Brain. 2021, 14(1), 126. E-ISSN 1756-6606. Dostupné z: doi: 10.1186/s13041-021-00838-y.