Severe peri-ictal respiratory dysfunction is common in Dravet syndrome

Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac mechanisms. Here we show that patients with DS commonly have p...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Autores principales: Kim, YuJaung, Bravo, Eduardo, Thirnbeck, Caitlin K., Smith-Mellecker, Lori A., Kim, Se Hee, Gehlbach, Brian K., Laux, Linda C., Zhou, Xiuqiong, Nordli, Douglas R., Richerson, George B.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2018
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5824857/
https://ncbi.nlm.nih.gov/pubmed/29329111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI94999
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