Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients. Here we characterized the epileptic and non-epileptic phenot...

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Detalles Bibliográficos
Autores principales: Mavashov, Anat, Brusel, Marina, Liu, Jiaxing, Woytowicz, Victoria, Bae, Haneui, Chen, Ying-Hsin, Dani, Vardhan S., Cardenal-Muñoz, Elena, Spinosa, Vittoria, Aibar, José Ángel, Rubinstein, Moran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191256/
https://www.ncbi.nlm.nih.gov/pubmed/37206664
http://dx.doi.org/10.3389/fncel.2023.1149391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191256/
https://www.ncbi.nlm.nih.gov/pubmed/37206664
http://dx.doi.org/10.3389/fncel.2023.1149391

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