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- Title
A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder.
- Authors
Mohinish S.; Cornelius, Leema P.; Elango, Neeraj; Livingston, Jered K.
- Abstract
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.
- Subjects
AMINO acid metabolism; DYSTONIA musculorum deformans; PARASYMPATHOMIMETIC agents; BACLOFEN; ARM; RARE diseases; BRAIN; ELECTROENCEPHALOGRAPHY; MOVEMENT disorders; MAGNETIC resonance imaging; DEVELOPMENTAL disabilities; LANGUAGE disorders; THREONINE; SODIUM channel blockers; HYPERKINESIA; GENETIC mutation; ISOLEUCINE; POSTURAL balance; GENETIC testing; SEQUENCE analysis
- Publication
Annals of Indian Academy of Neurology, 2024, Vol 27, Issue 2, p196
- ISSN
0972-2327
- Publication type
Article
- DOI
10.4103/aian.aian_1080_23