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. 2021 Aug 25;145(9):2991–3009. doi: 10.1093/brain/awab321

Figure 6.

Figure 6

Location of SCN8A variants associated with neurodevelopmental disorders. Schematic 2D representation of the Nav1.6 channel displaying the location of pathogenic variants. A comparison of the location of missense variants with proven GOF or a BFIE/intermediate epilepsy/DEE phenotype (without functional analysis) on one hand, and variants with proven LOF or generalized epilepsy/NDDwoE phenotypes (without functional analysis) on the other, revealed a significant difference in the distribution of variants (see main text and Supplementary material). Recurring variants are indicated with larger symbol size relative to the number of patients and in frame indels or deletions are indicated showing the whole affected regions [p.(Ile888_Val892delinsMet), p.(Glu1774_Ala1777del) and p.(Pro1428_Lys1473del)].