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.
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