EEG Findings Enhance the Yield of Epilepsy Gene Panel Testing in Children
Douglas R Nordli1, Douglas R Nordli2, Raj D Sheth1
1Mayo Clinic Florida, Jacksonville, Florida.
Insights
Epilepsy gene panel testing yielded an 80% success rate in identifying genetic causes for pediatric epilepsy when guided by electroencephalogram (EEG) analysis. This EEG characterization helps pinpoint patients most likely to benefit from genetic testing.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Epileptology
Background:
- Epilepsies with encephalopathy require prompt evaluation due to treatment resistance and potential for neurological decline.
- Early and accurate diagnosis is crucial for managing these complex neurological conditions.
Purpose of the Study:
- To assess the utility of electroencephalogram (EEG) characterization in optimizing epilepsy gene panel testing for pediatric patients.
- To determine the diagnostic yield of genetic testing when informed by EEG findings.
Main Methods:
- Retrospective analysis of 109 pediatric patients undergoing epilepsy gene panel testing.
- EEG data analyzed for features indicative of epileptogenic encephalopathy.
- Genetic testing results correlated with EEG findings.
Main Results:
- EEG characterization successfully identified patients with epileptogenic encephalopathy.
- An 80% diagnostic yield was achieved for epilepsy gene panel testing in selected patients.
- This approach enhanced the efficiency of genetic diagnosis.
Conclusions:
- EEG characterization is a valuable tool for selecting pediatric epilepsy patients for gene panel testing.
- Integrating EEG analysis optimizes the diagnostic pathway for genetic epilepsy.
- This strategy improves the likelihood of identifying causative genetic mutations.
Background:
Epilepsies with encephalopathy are important to promptly and thoroughly evaluate because of their associated refractory nature and potential for neurologic regression.
Methods:
The results of epilepsy gene panel testing were obtained for 109 pediatric patients at Nemours Children's Center in Jacksonville, Florida, from 04/2019 to 02/2021. Results were obtained from Invitae TM via the offered epilepsy gene panel test and Behind the Seizure program. The EEGs for each patient were independently analyzed and categorized based on the presence or absence of features consistent with an epileptogenic encephalopathy.
Results:
EEG characterization and identification of patients with epileptogenic encephalopathy in our study was helpful in identifying patients, with an 80% yield on epilepsy gene panel testing.
Conclusions:
EEG characterization can be incorporated into the evaluation of patients with epilepsy in order to optimize the selection of patients who are likely to benefit from an epilepsy gene panel test.
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