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Yield and Utility of Routine Epilepsy Panel Genetic Testing Among Young Patients With Seizures
Emily Grew1, Mayuri Reddy1, Hayley Reichner1
1Rutgers New Jersey Medical School, Newark, NJ, USA.
Insights
Routine epilepsy genetic testing in children under 8 years old yielded clinically relevant results, identifying pathogenic variants and variants of uncertain significance with implications for treatment and prognosis.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
Background:
- Epilepsy is a common neurological disorder in children.
- Genetic factors play a significant role in the etiology of pediatric epilepsy.
- Advances in genetic testing offer new diagnostic possibilities.
Purpose of the Study:
- To evaluate the diagnostic yield of routine epilepsy genetic panel testing in pediatric patients.
- To identify predictors of positive genetic testing results in children with epilepsy.
Main Methods:
- Retrospective review of epilepsy genetic panel results from July 2021 to July 2023.
- Inclusion of patients under 8 years old.
- Analysis of demographics, clinical features, family history, EEG, and MRI findings.
Main Results:
- 65 pediatric patients were included (mean age 4.5 years).
- Pathogenic variants were found in 16.9%, carriers for autosomal recessive conditions in 10.8%, and variants of uncertain significance in 55.4%.
- No association was found between genetic results and clinical features, demographics, or imaging.
Conclusions:
- Epilepsy genetic panels provide clinically relevant findings in pediatric patients.
- Identified variants have implications for treatment, comorbidity screening, reproduction, and prognostication.
- Routine genetic screening is valuable for diagnosing the cause of epilepsy in children.
Abstract:
Objective: We examined the yield of routine epilepsy panel genetic testing in pediatric patients. Methods: We retrospectively reviewed epilepsy genetic panel results routinely performed in the hospital or clinic on patients <8 years old from July 2021 to July 2023. We evaluated demographics, family history, seizure type, severity, and frequency, development, tone and movement abnormalities, dysmorphism, and electroencephalography (EEG) or magnetic resonance imaging (MRI) results as predictors of results. Results: 65 patients were included with mean age 4.5 years. Sixty percent of patients were male; 11 patients had pathogenic variants (16.9%), 7 were carriers for autosomal recessive conditions (10.8%), 36 had variants of uncertain significance (55.4%), and 11 tested negative (16.9%). Pathogenic variants and variants of uncertain significance were unassociated with demographics, clinical features, imaging, or family history. Conclusion: Variants identified have potential implications for treatment (SCN1), comorbidity screening (TSC1), reproduction (ATAD1, PSAT1, and CLN8), and prognostication (FOXG1). Patients not routinely screened for a genetic cause of epilepsy by our standard practices had clinically relevant results.
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