Figure 1.

Characterization of idNs. (A) Representation of Na_V1.1 channel. The star in segment 1 of domain I shows the localization of the mutated aminoacid (Met145Thr). The relative missense mutation c.434T > C is found in the exon 3 of the translated sequence. (B) Bright-field images of idNs from WT and SCN1A^M145T-iPSCs (20× magnification). (C) Differentiated idNs show high expression levels of neuronal specific genes such as MAP2, NEFM, NEFL, SYP and PSD95 compared to their undifferentiated counterparts (iPSCs). GAPDH was used as a housekeeping control. Data are presented as mean ± SEM of three biological replicates (black dots), * p < 0.05, ** p < 0.01, *** p < 0.001, t-test has been calculated vs. expression in iPSCs. (D) Immunostaining of neuronal markers TUBB3 (neurites marker), MAP2 (cell body and dendrites marker), and NEFH (axonal marker) in WT and SCN1A^M145T idNs. DAPI nuclear counterstain is shown in all images in blue (63× magnification).