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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:NPJ Genom Med
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2018
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak