Fig. 1

Splicing isoforms in voltage-gated sodium channels. A Voltage-gated sodium channels are composed of four similar domains (I, II, III, IV), each of which includes six transmembrane segments with extracellular or intracellular linkers. The fourth transmembrane segment (S4) in each domain acts as a voltage sensor. Between the fifth and sixth transmembrane segment (S5, S6) is a pore loop that forms the ion selectivity filter. The fifth protein-coding exon (5A/5N, CDS 5) encodes a portion of the first domain, while the 20th protein-coding exon (18A/18N, CDS 20) encodes a similar portion of the third domain. B Location, genomic coordinates (GRCh38/hg38), and amino acid sequence of the “5A” and “5N” exons in SCN1A. C–E The data in “B” is repeated for the genes SCN2A, SCN3A, and SCN8A. F Patterns of whole-gene expression of SCN1A in the human dorsolateral prefrontal cortex (DLPFC) across prenatal and postnatal development from the BrainVar dataset [33]. G–I The data in “F” is repeated for the genes SCN2A, SCN3A, and SCN8A. CDS: coding sequence; CPM: counts per million. Genomic coordinates are based on GRCh38/hg38 using GENCODE v31 gene definitions