Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

PURPOSE: The management of epilepsy in children is particularly challenging when seizures are resistant to anti-epileptic medications, or undergo many changes in seizure type over time, or have comorbid cognitive, behavioral, or motor deficits. Despite efforts to classify such epilepsies based on cl...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Veeramah, Krishna R, Johnstone, Laurel, Karafet, Tatiana M, Wolf, Daniel, Sprissler, Ryan, Salogiannis, John, Barth-Maron, Asa, Greenberg, Michael E, Stuhlmann, Till, Weinert, Stefanie, Jentsch, Thomas, Pazzi, Marjorie, Restifo, Linda L, Talwar, Dinesh, Erickson, Robert P, Hammer, Michael F
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3700577/
https://ncbi.nlm.nih.gov/pubmed/23647072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.12201
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky