Abstract
Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al. 2012; Németh et al. 2013). Our 377 gene epilepsy NGS test was developed to include genes known to cause or have published association with epilepsy and seizure-related disorders. Given the scale of information that is generated, the efficacy of an NGS panel depends on a number of factors, including the genes present on the panel, prebioinformatic and postbioinformatic analysis protocols, as well as reporting criteria, prompting the current study, a retrospective analysis of 305 cases tested for the epilepsy panel.
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References
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Acknowledgements
We gratefully acknowledge the patients who underwent testing using the epilepsy NGS test.
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Corresponding editor: S. Ganesh
Jen Bevilacqua and Andrew Hesse, analysis and interpretation of data, drafting manuscript; Brian Cormier, analysis and interpretation of data, review of manuscript; Jennifer Davey, acquisition of data, analysis and interpretation, review of manuscript; Devanshi Patel and Kritika Shankar, acquisition, collation, review of data for analysis, review of manuscript. Honey Reddi, study concept and design and supervision, critical revision of the manuscript for data and intellectual content.
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Bevilacqua, J., Hesse, A., Cormier, B. et al. Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel. J Genet 96, 681–685 (2017). https://doi.org/10.1007/s12041-017-0791-x
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DOI: https://doi.org/10.1007/s12041-017-0791-x