%0 Case Reports
%T A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder.
%A Mohinish S
%A Cornelius LP
%A Elango N
%A Livingston JK
%J Ann Indian Acad Neurol
%V 27
%N 2
%D 2024 Mar-Apr
%M 38751912
%F 1.714
%R 10.4103/aian.aian_1080_23
%X SCN1A mutation is most often associated with Dravet syndrome, which is characterized by severe encephalopathy. One of the other presentations of SCN1A 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 SCN1A 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.