Clinical Genetics & Orphacodes

Increasingly genetic, autoimmune and metabolic epilepsies are being recognized 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 also be targeted more. 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. The WG is open to clinicians and geneticists who may contribute to this phenotypic refinement across age groups, share expertise when discussing complex cases and provide genetic counselling. We also work for a homogeneous, optimal, ethical and cost- benefit approaches of genetic testing within the EU and for a regular update of the Orphacodes and corresponding summaries.