A Novel Case of Mutation Presenting As Hyperkinetic Movement Disorder

mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of mutation is developmental and epileptic encephalopathy-6B (DEE6B). It is a severe neurodevelopmental disorder characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder. Here we report a rare case of novel mutation presenting as hyperkinetic movement disorder in the form of multifocal dystonia and parakinesia in a 12-year-old boy, which aggravated with the use of sodium channel blockers.