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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha: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
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