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Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience
So Lee1, Natalya Karp2,3, Eugenio Zapata-Aldana1
1Division of Pediatric Neurology, Western University, London, Ontario, Canada.
Insights
Genetic testing offers significant benefits for children with epilepsy, aiding in diagnosis and management. Whole-exome sequencing showed the highest diagnostic yield, highlighting its utility in identifying genetic causes.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Epilepsy Research
Background:
- Epilepsy is a common neurological disorder in children.
- Identifying the genetic basis of epilepsy is crucial for diagnosis and treatment.
- Previous studies have shown varying diagnostic yields for different genetic testing modalities.
Purpose of the Study:
- To determine the diagnostic yield and clinical utility of genetic testing in pediatric epilepsy patients.
- To evaluate the effectiveness of different genetic testing methods, including whole-exome sequencing (WES), microarray, single-gene testing, and multigene panels.
- To assess the impact of genetic diagnoses on patient management and counseling.
Main Methods:
- Retrospective observational study of 105 children (birth-18 years) with epilepsy over a 10-year period.
- Data collected from clinic datasets and laboratory records.
- Analysis of diagnostic yields from whole-exome sequencing, microarray, single-gene testing, and multigene panels.
Main Results:
- Overall genetic diagnosis rate was 22.85%.
- Whole-exome sequencing (WES) demonstrated the highest diagnostic yield (35.71%).
- Single-gene and multigene panel testing showed similar yields (18.60% and 19.23%, respectively).
- Novel pathogenic variants were identified.
Conclusions:
- Genetic testing provides substantial benefits for children with epilepsy.
- Accurate clinical phenotyping is essential, as indicated by similar yields from single and multigene testing.
- Repatriation of multigene panels and WES to Ontario could benefit patients with epilepsy.
Background:
Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children's Hospital, London, Ontario, Canada.
Methods:
Children (birth-18 years) with epilepsy, who were seen in a 10-year period (January 1, 2008-March 31, 2018), were selected using defined inclusion criteria and by combining clinic datasets and laboratory records.
Results:
In total, 105 children (52.38% male and 47.61% female) with a variety of seizures were included in the analysis. Developmental delay was documented in the majority (83; 79.04%). Overall, a genetic diagnosis was established in 24 (22.85%) children. The diagnostic yield was highest for whole-exome sequencing (WES), at 35.71%. The yield from microarray was 8.33%. Yields of single-gene testing (18.60%) and targeted multigene panel testing (19.23%) were very similar. Several likely pathogenic and pathogenic variants not previously reported were identified and categorized using ACMG criteria. All diagnosed patients underwent a review of anti-seizure medication management and received counseling on natural history of their disease, possible complications, recurrence risks, and possibilities of preimplantation or prenatal genetic diagnosis.
Conclusions:
Our study confirms the multiple benefits of detecting a genetic etiology in children with epilepsy. Similar yields in single versus multigene testing underscore the importance of accurate clinical phenotyping. Patients with epilepsy and their caregivers in Ontario would undoubtedly benefit from repatriation of multigene panels and WES to the province.
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