Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy

Around 40% of individuals with epilepsy have an underlying identifiable genetic etiology. Common methods for epilepsy genetic testing are chromosomal microarray (CMA) and epilepsy-genes sequencing (EGS). Historically, CMA was the first-line test for patients with epilepsy, but recent studies have shown that EGS has a superior diagnostic yield. To further develop optimal testing algorithms for epilepsy, we compared these tests ’ diagnostic yields, and explored how they are influenced by the age of onset and phenotype complexity.

Source: Pediatric Neurology - October 26, 2023 Category: Neurology Authors: Kelly C. Burk, Maki Kaneko, Catherine Quindipan, My H. Vu, Maritza Feliz Cepin, Jonathan D. Santoro, Michele Van Hirtum-Das, Deborah Holder, Gordana Raca Tags: Research Paper Source Type: research