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EEG Findings Enhance the Yield of Epilepsy Gene Panel Testing in Children

      Abstract

      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.

      Keywords

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