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Article

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

7 Aug 2018

Abstract excerpt

Early infantile epileptic encephalopathy (EIEE) is a devastating epilepsy syndrome with onset in the first months of life. Although mutations in more than 50 different genes are known to cause EIEE, current diagnostic yields with gene panel tests or whole-exome sequencing are below 60%. We applied whole-genome analysis (WGA) consisting of whole-genome sequencing and comprehensive variant discovery approaches to a...

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PMID: 30109124
DOI: 10.1038/s41525-018-0061-8

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