Article

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

2023-02-02

Abstract excerpt

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 comorbidities of a novel preclinical Dravet mouse model harboring this nonsense Scn1a mutation. Heterozygous Scn1a R613...

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Literature Corpus work: f09dda58-1990-541a-95ac-bbc86e18abbb
DOI: 10.1101/2023.02.01.526678

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