Evaluation of Seizure Etiology From Routine Testing to Genetic Evaluation

Stephan U. Schuele, MD, MPH, FAAN Epilepsy p. 322-342 April 2019, Vol.25, No.2 doi: 10.1212/CON.0000000000000723
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PURPOSE OF REVIEW: Recognizing the cause of a first seizure and identifying the etiology of epilepsy are essential for management. A systematic approach to patients who present with a first seizure helps distinguish between an acute symptomatic seizure, a provoked or unprovoked seizure, and potential mimickers. Routine testing with EEG and MRI may reveal a predisposition for further seizures and help to establish the underlying epilepsy syndrome. An acquired etiology can be identified in 30% of patients with established epilepsy. The remaining 70% of patients have a presumably genetic etiology. Particularly in patients with specific epilepsy syndromes or suspicion for an autosomal dominant inheritance, genetic testing and counseling should be considered.

RECENT FINDINGS: Neuroimaging, autoimmune antibodies, and genetic testing have revolutionized our ability to investigate the etiology of many epilepsies. The new epilepsy classification distinguishes structural, metabolic, genetic, infectious, and immune-mediated etiologies, which often help determine prognosis and treatment.

SUMMARY: There is growing acceptance and demystification of the term epilepsy as the most common cause for recurrent seizures. The new classification of epilepsy does not stop with the recognition of particular epilepsy syndromes but aims to determine the underlying etiology. This can lead to earlier recognition of surgical candidates, a better understanding of many of the genetic epilepsies, and medical treatments aimed at the underlying mechanism causing the disease.

Address correspondence to Dr Stephan U. Schuele, Northwestern University, Department of Neurology, Abbott Hall #1425, 710 N Lake Shore Dr, Chicago, IL 60611, s-schuele@northwestern.edu.

RELATIONSHIP DISCLOSURE: Dr Schuele has received personal compensation for serving on the speaker’s bureau of Eisai Co, Ltd and Sunovion Pharmaceuticals Inc. Dr Schuele serves on the board of directors of the American Clinical Neurophysiology Society and the Epilepsy Foundation Greater Chicago, and on the editorial board of Journal of Clinical Neurophysiology. Dr Schuele has received research/grant support from the Danny Did Foundation and the National Institutes of Health and has been asked to provide expert medical testimony in cases involving sudden unexpected death in epilepsy.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Schuele reports no disclosure.

© 2019 American Academy of Neurology