From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet

Data generated or analyzed during this study are included in this article. This research was funded by the European Union—Next-Generation EU-PNRR M6/C2-Investment 2.1, Enhancement and strengthening of biomedical research in the NHS, CUP I23C24000250007 (Project no. PNRR-MR1-2023-12 377 843) to Massimo Carella, and by the Italian Ministry of Health Ricerca Finalizzata 2021 (Project no. RF_2021_12373524) to Marco Castori. Figure S1. Genetic and molecular characterization of the SCN1A (NM_001165963.4):c.94G>T, (p.Glu32*) variant. (A) Pedigree of the tested family. The proband (II.1, filled square, arrow) carries the variant in the heterozygous state (+/−). The father (I.2) tested negative (−/−); the mother was unable to be tested (?/?); (B) Electropherograms of the identified variant. The red arrow indicates the position of the nucleotide variant. The father (I.2) shows a reference sequence in homozygosity; the proband (II.1) shows a heterozygous G>T substitution; (C) Schematic topology of the Nav1.1 protein (SCN1A). The figure shows the four homologous transmembrane domains (Domain I–IV), each comprising six membrane-spanning segments (S1–S6). The red arrow indicates the position of the variant identified in the proband (p.Glu32*) within the cytoplasmic N-terminal region, proximal to Domain I, predicting a loss of the full-length protein due to premature termination. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.