Fig. 5From: Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature reviewSanger sequencing results of case 2. A denovo heterozygous missense mutation in the SYNGAP1 gene: c.2515(exon15) A > T (p.Lys839stop, 505) (NM_006772) in the proband of case 2, and themutation was not found in his parentsBack to article page