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. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199

Figure 3. Mapping of mutations within the STXBP1 gene.

Figure 3

(A) Mutations mapped within the 3 protein domains (cyan— domain 1, green—domain 2, and red—domain 3a/b) of the STXBP1 gene; (B) percentage of male and female cases reported to carry a pathogenic mutation for the STXBP1 gene. (C) Clinical spectrum associated with de novo STXBP1 mutations reported for early infantile epileptic encephalopathy (EIEE), focal cortical dysplasia (FCD), Ohtahara syndrome (OS), West syndrome (WS), Dravet syndrome, infantile spasms (ISs), neonatal refractory seizures, autism spectrum disorder, developmental delay, nonsyndromic intellectual disabilities (IDs), and atypical Rett syndrome.