Fig. 1
From: Expanding the genotype-phenotype spectrum in SCN8A-related disorders
A. Simplified diagram of NaV1.6 channel showing the locations of the variants identified in our cohort (novel mutations are in red font). B. HEK-293 cells were transiently transfected with hNaV1.6 WT, hNaV1.6 C324Y, plasmid vector with no channel construct to look for functional effects of C324Y variant. C324Y peak current density (pA/pF) levels were significantly different from WT but not from Vector control