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

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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Bibliographic Details
Main Authors: Anat Mavashov, Marina Brusel, Jiaxing Liu, Victoria Woytowicz, Haneui Bae, Ying-Hsin Chen, Vardhan S. Dani, Elena Cardenal-Muñoz, Vittoria Spinosa, José Ángel Aibar, Moran Rubinstein
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Cellular Neuroscience
Subjects:
Dravet syndrome
mouse model
seizures
hyperactivity
open access
Online Access:https://www.frontiersin.org/articles/10.3389/fncel.2023.1149391/full

Internet

https://www.frontiersin.org/articles/10.3389/fncel.2023.1149391/full

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