Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience

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.