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Dravet syndrome mouse models for novel gene therapy development| title | Dravet syndrome mouse models for novel gene therapy development |
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| start_date | 2023/11/07 |
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| schedule | 12h-14h |
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| online | no |
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| location_info | Bât. 462 - Amphithéâtre Neurocampus Michel Jouvet |
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| details | GT conférences du CRNL |
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| summary | Preclinical models for developmental epilepsies are a vital research tool. Utilizing mouse models for Dravet syndrome (Dravet), GRIN2D, and CHD2-related developmental epilepsies, we aim to uncover the pathophysiological disease mechanism as well as develop and test the potential therapeutic efficacy of novel treatment options.
Dravet, a severe developmental epilepsy with a high risk for premature death, is caused by loss of function mutations in the SCN1A gene, encoding for the voltage-gated sodium channels NaV1.1. Neuronal studies of these disease-recapitulating models demonstrated reduced excitability of inhibitory neurons and global complex synaptic changes.
Recently, we developed a canine adenovirus type 2 (CAV)-mediated gene transfer of the SCN1A gene. This gene therapy significantly ameliorated Dravet phenotypes in mice, following bilateral vector injections into the hippocampus or thalamus post-seizure onset. Specifically, CAV-SCN1A improved the mice survival, reduced the occurrence of epileptic spikes and spontaneous seizures, protected from heat-induced seizures, and improved their hampered cognitive function, providing a proof-of-concept of this potential therapeutic approach for Dravet epileptic and non-epileptic comorbidities. |
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| oncancel | — conférence annulée — |
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| responsibles | NC |
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Workflow history| from state (1) | to state | comment | date |
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| submitted | published | | 2023/09/14 15:32 UTC |
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