Table 1.
Summary of clinical characteristics of 18 patients with Dravet syndrome and 1 PCDH19-positive patient not grouped under Dravet syndrome.
Table 2.
Summary of SCN1A, PCDH19 and TSPYL4 mutations found in 17 patients.
Figure 1.
Schematic diagram showing the location of the identified mutations in the three encoded proteins.
Table 3.
Six insertion/frameshift SNPs of TSPYL1 from NCBI dbSNPs.
Table 4.
Pathogenicity assessment of 9 missense mutations and 2 tolerated amino acid substitutions.
Figure 2.
Evolutionary conservations of amino acid substitutions found in SCN1A, PCDH19 and TSPYL4.
Figure 3.
Degree of intellectual disability (ID) of patients with different types of SCN1A mutations.
The number above the bar chart indicated the number of DS patients in that group. ID: Intellectual disability; Mild ID: general/developmental quotient = 50–70; Moderate ID: general/developmental quotient = 25–50; Severe ID: general/developmental quotient<25.