One of the objectives of the Dravet Syndrome European Federation is to make it easier for researchers to understand Dravet syndrome and to look for better treatments and a cure. We will do that by making sure that all the researchers around the world can have mice with Dravet syndrome, the right protocols to do studies in these mice and a place to send their compounds if they want them tested in Dravet syndrome.
We have generated a new inducible mouse model for Dravet syndrome carrying the patient mutation A1783V in the Scn1a gene. The mice are available with a no-cost license through the Jackson Laboratory.
Starting in summer 2018 the Dravet mice will also be available for pharmacological testing through the Epilepsy Therapy Screening Program (ETSP), sponsored by the NINDS.
The mission of the ETSP is to encourage and facilitate the discovery of new therapeutic agents for the treatment of epilepsy disorders. Since its establishment in 1975, the program has made important contributions to the development of several approved drugs for epilepsy.
The Dravet syndrome model is the first model of a genetic epilepsy, and of a rare epilepsy, to be included in the panel. The ETSP service runs independently from the DSEF, so for more information please contact the Program Director at https://www.ninds.nih.gov/Current-Research/Focus-Research/Focus-Epilepsy/ETSP
The open-access mouse model generation was led by Dr Ana Mingorance, from DSF Spain, and funded by DSF Spain and the Swiss Dravet Syndrome Association.
We have also characterized the disease phenotype of these mice when reproducing the patients’ genotype: global expression of the A1783V mutation in heterozygosis. Mice heterozygous for the A1783V mutation have epilepsy, high incidence of premature mortality, hyperactivity, motor stereotypies (autism spectrum), mild cognitive impairment and multiple motor abnormalities. These results how that the new Dravet mice have many of the symptoms present in patients and validates the translational value of the model. The results have been presented at the SfN and AES 2016 meetings and a publication is expected for 2017.
This project is led by Dr Ana Mingorance, Scientific Director at DSF Spain, and funded by DSF Spain with support from the Swiss Dravet Syndrome Association, Dravet-Syndrom e.V., Stichting Dravetsyndroom NL/VL, Associazione Italiana Sindrome di Dravet Onlus, Gruppo Famiglie Dravet Associazione Onlus and the Alliance Syndrome de Dravet.