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Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: A single-center cohort study

2025-04-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> The genetic etiology of epilepsy is highly heterogeneous and complex. Copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) have emerged as effective tools for identifying genetic causes in patients with unexplained epilepsy. This study aimed to investigate the genetic etiology, evaluate the diagnostic utility of concurrent CNV-seq and WES,...

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Literature Corpus work: c0d743e0-3b46-5cac-bb56-b1c6d4b6d3d7
DOI: 10.21203/rs.3.rs-6159182/v1

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