Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers

Autor: Sierra-Marcos, A., Ribosa-Nogué, R., Vidal-Robau, N., Aldecoa, I., Turón, E., Rodríguez-Santiago, B., Turón, M., Boronat, S., Molina-Porcel, L.
Zdroj: In Epilepsy Research January 2024 199
Databáze: ScienceDirect