Neuropediatrics 2017; 48(S 01): S1-S45
DOI: 10.1055/s-0037-1603006
P – Poster
Georg Thieme Verlag KG Stuttgart · New York

Recommendations for Diagnostic Genetic Testing in Epilepsies

S. von Spiczak
1   Department of Pediatrics II, University Hospital Schleswig-Holstein, Campus Kiel, Germany
,
K.-M. Klein
3   Epilepsy Center Frankfurt Rhein-Main, University Hospital Frankfurt, Frankfurt, Germany
,
G. J. Kluger
4   Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany
,
J. R. Lemke
6   Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany
,
B. A. Neubauer
7   Department of Neuropediatrics, Epilepsy Center Hessen, Justus-Liebig-University, Giessen, Germany
,
Y. G. Weber
8   Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
› Author Affiliations
Further Information

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.