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Can J Neurol Sci ; 43(4): 585-7, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26889571

RESUMO

Dravet syndrome (DS) is a severe epilepsy syndrome characterized by early onset of multiple types of seizures. We report the first case of reflex seizures triggered by diaper change in a girl at 9 months old and 2 years old with a mutation in the SCN1A gene causing DS. Reflex seizures have been reported in patients with DS provoked by increased body temperature or visual stimulation. The case we report widens the spectrum of triggers causing reflex seizures in children with DS. Cortical hyperexcitability resulting from the genetic defect explains the tendency to experience such reflex seizures.


Assuntos
Fraldas Infantis/efeitos adversos , Epilepsias Mioclônicas/fisiopatologia , Epilepsia Reflexa/etiologia , Pré-Escolar , Feminino , Humanos
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