A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion

Figure 2

Five PRRT2 identified mutations in PKD/IC patients. (a) NM_1452392.2:c.650_670delinsCAATGGTGCCACCACTGGGTTA p.(Arg217Profs8); (b) NM_1452392.2:c.412C>G p.(Pro138Ala); (c) NM_1452392.2:c.709G>A p.(Gly237Arg); (d) NM_1452392.2:c.686G>A p.(Arg229Lys); and (e) NM_1452392.2:c.743G>C p.(Ser 248Thr).