Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.
Sierra-Marcos A, Ribosa-Nogué R, Vidal-Robau N, Aldecoa I, Turón E, Rodríguez-Santiago B, Turón M, Boronat S, Molina-Porcel L. Epilepsy Res. 2024 Jan; 199:107266. Epub 2023 Dec 2.