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

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 w...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Ostrander, Betsy E. P., Butterfield, Russell J., Pedersen, Brent S., Farrell, Andrew J., Layer, Ryan M., Ward, Alistair, Miller, Chase, DiSera, Tonya, Filloux, Francis M., Candee, Meghan S., Newcomb, Tara, Bonkowsky, Joshua L., Marth, Gabor T., Quinlan, Aaron R.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6089881/
https://ncbi.nlm.nih.gov/pubmed/30109124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0061-8
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