Article

Clinical and molecular diagnostic study of 320 Chinese children with epilepsy by Genome Sequencing

2020-07-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To evaluate the diagnostic value of Genome Sequencing(GS)in children with epilepsy. <h4>Methods</h4> We performed GS on 320 Chinese children with epilepsy and interpreted Single Nucleotide Variants (SNVs) and Copy Number Variant (CNVs) of all samples. The complete pedigree and clinical data of the probands were established and followed up. The clinical phenotypes, treatments, pro...

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Literature Corpus work: 38c22062-7c5d-5bcf-818e-fde3ec26942e
DOI: 10.1101/2020.07.16.20153254

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