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Article

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

Pediatric neurology - 1 Jan 2024

Burk Kelly C, Kaneko Maki, Quindipan Catherine, Vu My H, Cepin Maritza Feliz, Santoro Jonathan D, Van Hirtum-Das Michele, Holder Deborah, Raca Gordana

Abstract excerpt

BACKGROUND: 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 optimize testing algorithms for epilepsy, we...

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Identifiers

PMID: 37979304
DOI: 10.1016/j.pediatrneurol.2023.10.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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