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Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing - Journal of Human Genetics

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Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing - Journal of Human Genetics

To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS). Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pathogenic variants tested by next-generation sequencing (NGS) were enrolled. Mosaic variants were detected in seventeen disease-associated genes from 20 probands, 5 paternal, and 6 maternal parents. The frequency of mosaicism was 11.74% (31/264).

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Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing - Journal of Human Genetics

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Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing - Journal of Human Genetics

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