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Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.

Clinical genetics - 1 Aug 2024

Chengyan Li, Chupeng Xue, You Wang, Yinhui Chen, Binglong Huang, Dang Ao, Ling Liu, Chuan Tian

Abstract excerpt

Genotype and clinical phenotype analyses of 128 children were performed based on whole exome sequencing (WES), providing a reference for the provision of genetic counseling and the precise diagnosis and treatment of epilepsy. A total of 128 children with unexplained epilepsy were included in this study, and all their clinical data were analyzed. The children's treatments, epilepsy control, and neurodevelopmental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38468460
DOI: 10.1111/cge.14519

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