Fig. 4

Deep intronic variant c.4002 + 2461T > C in SCN1A intron23 is predicted to introduce a premature termination codon (PTC) in exon 24. a Alignment of 64-nt intron23 retention showed the sequence conservation across multiple species. Two variants from Carvill et al. are labeled in black and variant identified from this study is labeled in red. b The sequences of 64-nt intron 23 retention introduced PTC in exon24 due to frameshift and predictively resulted in NMD or truncated protein. Grey highlight: exon23; Cyan highlight: exon24; Red highlight: 64-nt intron retention. Yellow highlight: variant in this study; Pink highlight: stop codon (TAA)