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Dravet Tools

Scientists need access to research tools to be able to study diseases. When it comes to rare diseases, limited access to critical research tools restricts who can study the syndrome and how fast the field can progress. At the Dravet Syndrome Foundation Spain we have made it a priority to identify and generate these tools in order to accelerate the development of new therapies to treat Dravet syndrome.

Scientists interested in having access to any of these resources or sharing their own research tools are invited to contact us at research@dravetfoundation.eu

Free genetic test

Available as a service

We run a service to determine the presence of mutations in SCN1A in patients with suspected Dravet syndrome. This service needs to be requested by a physician and is intended to assist with diagnosis.

NGS screening using an epilepsy panel with 300+ genes

Available through collaborations

A panel of more than 300 genes specifically developed to identify genetic epilepsies is available to researchers or physicians of patients with epilepsy with unknown genetic origin under a research collaboration. The NGS panel is not yet a service for diagnosis but a tool for research purposes.

SCN1A-negative blood samples

Available through collaborations

Through the genetic diagnosis service we have collected numerous DNA samples from patients with Dravet syndrome-like phenotype that turned out not to have mutations in SCN1A. We share these samples under collaborations to identify new epilepsy genes. Any discovery of a likely pathogenic mutation will also be reported to the submitting physicians and families.

Additional blood samples

Available through collaborations

We are able to collect new blood samples from Dravet syndrome patients and control subjects for research studies. For example, we collaborated with the Complutense University of Madrid in a study to measure blood levels of endocannabinoid pathway markers in Dravet syndrome. We are able to assist with similar clinical studies requiring patient samples under collaborations on a case-by-case basis.

Cell line stably expressing wild-type Nav1.1

Available through collaborations

We have an automated patch clamp system to measure sodium currents in HEK cells stably expressing human Nav1.1 channel that we use to try to identify novel modulators with a potential to treat Dravet syndrome. We can evaluate a compound ability to activate or inhibit Nav1.1 using these cells in the frame of scientific collaborations.

Cell line stably expressing wild-type Nav1.6

Available through collaborations

We have an automated patch clamp system to measure sodium currents in CHO cells stably expressing human Nav1.6 channel that we use to try to identify novel modulators with a potential to treat Dravet syndrome. We can evaluate a compound ability to inhibit Nav1.6 using these cells in the frame of scientific collaborations.

SCN1A-defficient zebrafish

Available through a collaborator

We collaborate with a group that uses zebrafish lines deficient in Nav1.1 to try to identify new compounds with a potential to treat Dravet syndrome. This collaborator is able to engage with other groups in the frame of research collaborations for compound evaluation in the scn1a model or generation of new zebrafish models with deficiency in other epilepsy-related genes.

Mutated SCN1A conditional knock-in mouse

Available at the Jackson Laboratory

We have developed a new open-access mouse model for Dravet syndrome that is now available through the Jackson Laboratory repository. It is a conditional knock-in strain that expresses the A1783V SCN1A mutation (found in Dravet syndrome) upon Cre recombinase.

Universities and non-profits can directly request the mice through the Jackson Laboratory website. For-profits require an agreement from DSF Spain before obtaining the mice.

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