Improve skills in the electro-clinical diagnostic will allow SU to better delineated other epileptic syndromes in children. The increased technical capacity in NGS will allow SU to develop its panel design and to use their acquired skills in other genetic disease (eg: neuromuscular diseases, leucodystrophy…) and then to improve its TRL (from 4 to 9).
Results obtained as indicated before, allow SU:
- in the mid term, to be considered as an international leader in EE and to be involved in clinical trials in specific forms of EE and epileptic syndromes;
- in the long-term, to discover new causative genes that will be used to implement diagnostic pipelines and research projects in laboratories studying the physiopathological basis of these diseases. Also, they will allow SU member to participate more actively to international effort on functional analysis and identification of more targeted therapies as an efficient translation of research finding to the clinic.
Besides, European partners will have access to more patients with AR forms of EE, and will enlarge their database and refine their expertise in these particular forms of EE.