Article

Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes

2024-07-08

Abstract excerpt

<title>Abstract</title> <p>Epilepsy, a prevalent neurodevelopmental disorder in children, is often accompanied by detrimental psychological consequences and other comorbidities. We perform exome sequencing on 963 patient-parent trios, revealing differences in genetic epidemiology between Chinese and European epilepsy cohorts. The diagnostic yield for known epilepsy genes is 40%. Pathogenic variants are most commo...

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Literature Corpus work: 0f6f27f2-06a8-501d-9f0f-2b7b7968cca3
DOI: 10.21203/rs.3.rs-4215666/v1

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