Figure 2
From: A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
Electropherogram and corresponding genomic data. The electropherogram of the KCNT1 exon 15 indicates a heterozygous missense mutation, c.1420C>T (p.Arg474Cys), in KCNT1. The affected residue is conserved across species. Although there are some single-nucleotide variants (SNVs) proximal to the identified mutation, the same SNVs are not found in the database.
