West syndrome (WS) is one of the well-known types of early onset epileptic encephalopathy, which is characterized by infantile onset of recurrent seizures and prominent interictal epileptiform discharges with frequent neurological comorbidity. A variety of mutations and copy number variations (CNVs) have been associated with this epileptic disorder. Among these, germline mutations in voltage-gated sodium channels (VGSCs) have been implicated in various neurological disorders. In particular, the chromosome 2q24.3 region has been drawing increasing attention since it harbors three VGSC genes: SCN1 A, SCN2A, and SCN3A.
17
JUN
JUN
0