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. 2023 Jul 19;146(12):5153–5167. doi: 10.1093/brain/awad245

Table 1.

Patient information and SCN1A variant position and amino acid changes

ID Sex Age (years) Mutation
PAT001_DRAV Female 4 c.4168G>A (p.Val1390Met)
PAT001_GEFS Female 10 c.2576G>A (p.Arg859His)
FAM001_FS Male 49 c.3926T>G (p.Leu1309Arg)
FAM001_GEFS Female 14 c.3926T>G (p.Leu1309Arg)
FAM001_DRAV Male 16 c.3926T>G (p.Leu1309Arg)