A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome seque...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Benson, Katherine A., White, Maire, Allen, Nicholas M., Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J., Lynch, John, McCormack, Mark, Regan, Mary O’, Podesta, Karl, Power, Kevin, Rogers, Anthony S., Steward, Charles A., Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, Cavalleri, Gianpiero L.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7381648/
https://ncbi.nlm.nih.gov/pubmed/32238909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0610-3
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