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Call for collaborative genetic research on rare and complex epilepsies.

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One of the missions of the ERN EpiCARE is to promote clinical research and the production of cross-border collaborative work on genetic epilepsies. Our field is confronted with an extremely large number of new genes, for which the clinical spectrum and/or natural history is often barely known; usually, the number of patients published is limited to a handful, their recruitment may be strongly biased towards a few clinical features, and their clinical description is often limited.

Through this section, we share the opportunity of collaborative calls for European series of patients carrying variants in already known genes but with limited knowledge that need to be expanded.

The main aim of this initiative is to recruit cohorts of patients carrying rare variants in genes without a well-defined phenotypic spectrum, where single centre studies would not yield significant series. EpiCARE can facilitate this type of studies by connecting several centers across Europe involved in the study of genetic epilepsies.

The principle behind this initiative is simple:

  • Any EpiCARE member can submit a call for collaboration on a gene, a group of functionally-related genes, a copy number variant or a specific phenotype/genotype.
  • The call is shared across all EpiCARE members and remains open for 6 months.
  • These calls are not necessarily based on basic or translational research, but require that the project leader already has data on at least 2 or 3 unrelated patients.
  • The project leader is committed to bring this work to completion (at least one publication), and to keep the EpiCARE committee informed of the progress of the work.
  • EpiCARE’s role as facilitator will be acknowledged in the publication.

You will find the submission template both here, or on the EpiCARE Genetic Epilepsies Platform
Please follow the instructions in the template and send it back to Sébile Tchaicha, EpiCARE research manager. She will contact you after review of the project. 

If you are instead interested in collaborative research on novel genes within the EpiCARE community, please use the EpiCARE Genetic Epilepsies Platform that has been developed specifically for this purpose.

Please find below the list of current calls :

  • Short title:

Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment

  • Targeted gene(s)/phenotype under study 

GRIA1 (#138248), GRIA2 (#618917), GRIA3 (#300699), and GRIA4 (#617864)

  • Summary :

GRIA genes encode AMPAR receptors which are important for the function of excitatory neurons. Disease-causing variants in GRIA, GRIA2, GRIA3, and GRIA4 cause a neurodevelopmental disorder (NDD) with mild-profound developmental and cognitive impairment, behavioral difficulties, early-onset and treatment-resistant seizures. Only few patients have been reported leaving phenotypical spectrum and genotype-phenotype correlations ill-defined.

We want to:

  1. collect clinical data from patients with rare GRIA variants in order to establish a database of high-quality genetic and clinical data sets.
  2. Systematically evaluate the impact of GRIA variants on key parameters of AMPAR function using a combination of biochemical and functional assays and advanced electrophysiology to pinpoint exact phenotypical mutational impact on AMPAR molecular function and classify pathogenicity of variants.
  3. Analyze correlations between patient disease phenotypes and specific effects on receptor function to establish genotype-phenotype patterns and perform pilot experiments to explore options for rescue pharmacology using existing AMPAR drugs.
  • Coordinating clinician: Allan Bayat
  • Institution (dept, hospital, city, country): Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre Filadelfia, Dianalund, Denmark
  • Contact email: abaya@filadelfia.dk, bayabayabayat@hotmail.com
  • Specific requirements beyond clinical and genotype data :
    • Re-analysis of DNA samples: N
    • Resampling of patients: N
    • Linked to a translational/basic research project? Y

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