Article

Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes

2024-06-11

Abstract excerpt

Epilepsy, a prevalent neurodevelopmental disorder in children, is often accompanied by detrimental psychological consequences and other comorbidities. We performed 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 was 40%. Pathogenic variants were most commonly found in SCN1A, KCNQ...

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Literature Corpus work: aa967770-abbc-553f-a22d-2633f682b8c3
DOI: 10.1101/2024.06.11.24308522

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