Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

• Published in: Seizure (London, England) England), 2018-07, Vol.59, p.132-140
• Main Authors: Kothur, Kavitha, Holman, Katherine, Farnsworth, Elizabeth, Ho, Gladys, Lorentzos, Michelle, Troedson, Christopher, Gupta, Sachin, Webster, Richard, Procopis, Peter G., Menezes, Manoj P., Antony, Jayne, Ardern-Holmes, Simone, Dale, Russell C., Christodoulou, John, Gill, Deepak, Bennetts, Bruce
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Cost efficacy; Cost-Benefit Analysis; Epilepsy; Epilepsy - diagnosis; Epilepsy - economics; Epilepsy - genetics; Female; Genetic Predisposition to Disease; Genetic Testing - economics; Genetic Testing - methods; Genetic Variation; Genetics; High-Throughput Nucleotide Sequencing - economics; Humans; Infant; Male; Massively parallel sequencing; Phenotype; Retrospective Studies; Yield
• ISSN: 1059-1311; 1532-2688
• DOI: 10.1016/j.seizure.2018.05.005

•The EE panel yield is highest in early onset epileptic encephalopathies.•Clinical phenotyping is central to the interpretation of genetic results.•Genetic diagnosis has specific implications for management in selected cases.•Targeted MPS EE panel is economical in avoiding the potential diagnostic odyssey. To report our institutional experience of targeted massively parallel sequencing (MPS) testing in children with epilepsy. We retrospectively analysed the yield of targeted epileptic encephalopathy (EE) panel of 71 known EE genes in patients with epilepsy of unknown cause, who underwent clinical triage by a group of neurologists prior to the testing. We compared cost of the EE panel approach compared to traditional evaluation in patients with identified pathogenic variants. The yield of pathogenic variants was 28.5% (n = 30/105), highest in early onset EE