PMC8686832_01
(A) Pedigree of the reported family. The proband is indicated by a bold arrow. (B) Electropherogram showing the heterozygous variant NM_001165963.2:c.4852G>A [p.(Gly1618Ser)] confirmed in the proband by Sanger sequencing. (C) Scheme of Nav1.1 channel structure. The location of the novel missense variant is indicated by a red star. (D) Multiply alignment showing the conservation of the affected nucleotide in different vertebrates. On the top is a position weight matrix of the site of the splicing donor.
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PMC8686832_01_fneur-12-761892-g0001.jpg
F1
The proband has three healthy siblings (Figure 1A).