Détail du document
Identifiant
oai:pubmedcentral.nih.gov:1109...
Sujet
Case ReportAuteur
Mohinish, S. Cornelius, Leema P. Elango, Neeraj Livingston, Jered K.Langue
enEditeur
Wolters Kluwer - Medknow
Catégorie
Annals of Indian Academy of Neurology
Année
2024
Date de référencement
10/06/2024
Mots clés
movement hyperkineticRésumé
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
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