Fig. 3

In vitro minigene assay demonstrated an intron retention produced due to the deep intronic variant in SCN1A. a A schematic illustration of the deep intronic variant c.4002 + 2461T > C (NM_001165963.2) (highlighted in red) in SCN1A causing aberrant splicing. b RT-PCR amplified minigene transcripts showed the variants activating of cryptic splice sites (3’ss: c.4002 + 2425; 5’ss: c.4002 + 2489) which resulted in a 64-nt intron retention. RT‐PCR: reverse transcription‐polymerase chain reaction; WT, wild‐type; mut: Mutation; 5’ss: donor splice site; 3’ss: acceptor splice site