PMC6054605_01
PMC6054605_02
De novo heterozygous mutation in SCN2A, detected in our patient: c.4378G>C: p.G1460R
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Fig1
The mutation, c.4378G>C: p.G1460R (NM_021007.2), was in the coding region of exon 23 (Fig. 1).
The clarification of mutations in SCN2A. a Correlation between SCN2A genotypes and phenotypes. The vertical axis indicates the number of mutations. b Mutations in SCN2A with epilepsy. c Mutations in SCN2A with nonsyndromic intellectual disability or autism spectrum disorders. del deletion, ins insertion, dup duplication, ID intellectual disability, ASD autism spectrum disorder
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PMC6054605_02_41439_2018_19_Fig2_HTML.jpg
Fig2
Missense mutations tend to lead to seizure development (Fig. 2a, b). The mutations causing nonsyndromic ID or ASD are variable (Fig. 2c).