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

Figure 4.

Figure 4

Distribution of affected individuals carrying SCN8A variants according to phenotype and age of seizure onset. Phenotypic subgroups of the total cohort (A) and individuals carrying LOF (B) or GOF (C) variants. (A) In the total cohort, 225 affected individuals (57.4%) had BFIE, intermediate epilepsy or DEE; 20 individuals (5.1%) had generalized epilepsy; and 20 individuals (5.1%) had a NDDwoE. (B) Twenty-five affected individuals had generalized epilepsy or an NDDwoE, accounting for 73.5% of LOF variant carriers, whereas 71.6% of GOF variant carriers had BFIE, intermediate epilepsy or DEE (C). Histogram of the age at seizure onset in affected individuals with BFIE (D), intermediate epilepsy (E), DEE (F) and generalized epilepsy (G). (H) Stacked histogram of age at seizure onset in affected individuals with focal epilepsy (FE) carrying GOF (FE+GOF), LOF (FE+LOF) or SCN8A variants which are not functionally characterized. (I) Stacked histogram of age at seizure onset in affected individuals with generalized epilepsy (GE) carrying LOF (GE+LOF) or SCN8A variants which are not functionally characterized. (J) Stacked histogram of age at seizure onset in affected individuals carrying GOF variants with FE (FE+GOF) or unclassifiable epilepsy (UE+GOF). (K) Stacked histogram of age at seizure onset in affected individuals carrying LOF variants with generalized epilepsy (GE+LOF), FE (FE+LOF) or unclassifiable epilepsy (UE+GOF). Affected individuals with BNIE, intermediate epilepsy or DEE exhibited a significant earlier age at seizure onset than individuals with generalized epilepsy (Kruskal-Wallis test, P < 0.001), which is also observed for GOF versus LOF variant carriers (Mann-Whitney test, P < 0.001). Histogram bin size = 1 month. Seizure type distributions of affected individuals with FE versus generalized epilepsy (L) and GOF versus LOF variant carriers (M).