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Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures

Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies. It is characterised by prolonged seizures, typically provoked by fever. We describe the evaluation of an SCN1A mutation in a child with early-onset temperature-sensitive seizures. The patient carries a heterozygous missense va...

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Detalles Bibliográficos
Autores principales: Peters, C., Rosch, R. E., Hughes, E., Ruben, P. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007485/
https://www.ncbi.nlm.nih.gov/pubmed/27582020
http://dx.doi.org/10.1038/srep31879