CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature

Figure 1 Electroencephalogram of the patient. It showed generalized continuous spike-and-wave patterns in the bitemporal and frontal lobes, noticeable on the left side. Abnormal discharge was more pronounced during the sleep-electroencephalogram. Slower on background activity.

Figure 2 Gene sequences of three members in the family. A: De novo mutation of the CNKSR2 gene (c. 2185C>T, p.Arg729Ter) in the patient; B, C: No mutation was observed at the same locus in the parents (arrows).

Figure 3 Secondary structures of wild-type and mutated CNKSR2 proteins predicted by PSIPRED. A: The wild-type CNKSR2 gene encodes an intact peptide chain of 1034 amino acids; B: The mutated CNKSR2 gene leads to an early termination of the synthesis of the peptide chain and only No.1-728 amino acids are expressed.

Figure 4 Tertiary structures of wild-type and mutated CNKSR2 proteins predicted by RaptorX. The spatial structures of CNKSR2 proteins are significantly different between the wild-type (A) and the patient (B).