Workpackage 2 – Laboratory Diagnostics


Increasingly genetic, autoimmune and metabolic epilepsies are being recognised although few characteristic epilepsy phenotypes have been identified (i.e. PCDH19, SCN1A, NMDA encephalitis, GLUT1 deficiency) that permit prediction of which aetiology is likely involved. Progressive refinement of the phenotype will reduce the number of patients who require molecular genetics, for diagnostic purposes (with consequent financial impact, particularly for patients with poor social coverage). Neural autoantibody testing and metabolic testing can be also more targeted. Refining phenotypes requires that specific features (seizure, EEG, MRI characteristics, cognitive profile, psychiatric, movement and other possible comorbidities,) are identified accurately by physicians with appropriate expertise. Knowledge of these additional symptoms and their prediction may permit actions to reduce their impact. For given conditions, few experts have devoted time on the identification of the phenotype. Experts need to be identified from within the network so that they may contribute to this phenotypic refinement. The identification of aetiological groups throughout the EU will be able to provide appropriate genetic, metabolic and immune testing to a wider population.


  • To refine the clinical/EEG phenotype with genotype correlation (characteristics of the epilepsy, including age and mode of onset and course, type of cognitive disorders, minimum features necessary for the diagnosis – in which cases genotyping is mandatory)
  • To optimize the genetic and biochemical work-up to save resources when possible, and complete with functional validation if needed
  • Identify groups providing next generation sequencing and new gene identification
  • Identify expert groups able to provide genetic evaluation and diagnosis
  • To refine the clinical/EEG phenotype with autoimmune aetiology correlation (characteristics of the epilepsy, including age and mode of onset and course, type of comorbid disorders)
  • Identify expert groups able to provide neural antibody testing/autoimmune disease evaluation and diagnosis


  • D 2.1 Report on key diagnostic laboratories
  • D 2.3 Open access publication on epilepsy phenotype per aetiology at month 36
  • D 2.4 Report of economic impact of wider diagnostic evaluation at month 48


  • M 6 Link of genetic registries to clinical trials end of year 3


Pr. Rima Nabbout, MD, PhD

Hôpital Necker – Enfants Malades

Paris, France

Pr. Rima Nabbout, MD, PhD

Professor Reetta Kälviäinen

Pohjois-Savon sairaanhoitopiiri (Kuopio University Hospital)

Kuopio, Finland

Pr. Reetta Kälviäinen