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DOI: 10.1055/s-0037-1603006
Recommendations for Diagnostic Genetic Testing in Epilepsies
Publication History
Publication Date:
26 April 2017 (online)
Background/Purpose: Childhood epilepsies are frequently caused by genetic alterations. During the last years, research initiatives identified multiple genes and genetic anomalies that are responsible for various epilepsy syndromes. Especially in the group of severe, early-onset epilepsies and epileptic encephalopathies, the number of possibly causal genes is increasing continuously. At the same time, new diagnostic methods become widely available, but need to be reviewed critically with respect to possibilities and pitfalls.
Methods: Within the German section of the International League against Epilepsy (Deutsche Gesellschaft für Epileptologie, DGfE), a genetics commission was founded in 2016. Members of this group are experts in the field of epilepsy genetics and have reviewed the current knowledge and available literature to provide recommendations for a diagnostic work-up in different clinical scenarios. The document will be updated regularly.
Results: We present a comprehensive overview on genes and diagnostic tests that shall advice and guide clinicians regarding a diagnostic genetic work-up in epilepsy patients. In addition, important concepts of epilepsy genetics are discussed briefly and various diagnostic methods are explained. The document will be freely available on the DGfE webpage from May 2017.
Conclusion: These up-to-date recommendations will advise and guide neuropediatricians and pediatric epileptologists when planning a genetic workup of epilepsy patients.