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Seizure ; 92: 155-157, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34521063

RESUMO

Dravet syndrome (DS) is a severe infantile-onset epilepsy syndrome featuring drug resistant epilepsy, global developmental delay and intellectual disability. In addition to ataxia and progressive crouch gait, Parkinsonism has recently been reported as characteristic in young adults with DS. We describe 5 patients out of a series of 23 patients with DS who present between 12 and 24 months of age with repetitive episodes of eyelid closure, sometimes as fast as eye blinking or flickering. Consistent lack of any EEG correlate in serial video-EEG ruled out an epileptic origin. We propose that this movement disorder, namely 'eyelid stereotypies', might be an early motor trait of SCN1A-associated DS.


Assuntos
Epilepsias Mioclônicas , Espasmos Infantis , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/genética , Pálpebras , Humanos , Mutação , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Adulto Jovem
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