Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epilept...
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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-gen...
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Full title
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6089881
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6089881
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-018-0061-8
