detalle del documento
IDENTIFICACIÓN
oai:pubmedcentral.nih.gov:1109...
Tema
Case ReportAutor
Mohinish, S. Cornelius, Leema P. Elango, Neeraj Livingston, Jered K.Langue
enEditor
Wolters Kluwer - Medknow
Categoría
Annals of Indian Academy of Neurology
Año
2024
fecha de cotización
10/6/2024
Palabras clave
movement hyperkineticResumen
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.
Mohinish, S.,Cornelius, Leema P.,Elango, Neeraj,Livingston, Jered K., 2024, A Novel Case of SCN1A Mutation Presenting as Hyperkinetic Movement Disorder, Wolters Kluwer - Medknow
A Surface Adaptive First-Look Inspection Planner for Autonomous Remote Sensing of Open-Pit Mines
open-pit proposed inspection
Shared Neural Activity But Distinct Neural Dynamics for Cognitive Control in Monkey Prefrontal and Parietal Cortex
prefrontal population cues contextual instructed cortical cortex pfc control cognitive task information neurons activity
