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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Pubblicato in:NPJ Genom Med
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Article
Accesso online: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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